Georg Friedrich Hoffmann

Georg Friedrich Hoffmann's AcademicInfluence.com Rankings

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Georg Friedrich Hoffmann's Published Works

Number of citations in a given year to any of this author's works

Total number of citations to an author for the works they published in a given year. This highlights publication of the most important work(s) by the author

Published Works

Expanded newborn screening for inborn errors of metabolism by electrospray ionization-tandem mass spectrometry: results, outcome, and implications. (2003) (470)
A European multicenter study of phenylalanine hydroxylase deficiency: classification of 105 mutations and a general system for genotype-based prediction of metabolic phenotype. (1998) (344)
Neonatal epileptic encephalopathy caused by mutations in the PNPO gene encoding pyridox(am)ine 5'-phosphate oxidase. (2005) (272)
Diagnosis and management of glutaric aciduria type I – revised recommendations (2011) (268)
Clinical and biochemical phenotype in 11 patients with mevalonic aciduria. (1993) (247)
Natural History, Outcome, and Treatment Efficacy in Children and Adults with Glutaryl-CoA Dehydrogenase Deficiency (2006) (230)
Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy (2012) (226)
Clinical course, early diagnosis, treatment, and prevention of disease in glutaryl-CoA dehydrogenase deficiency. (1996) (211)
Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis. (2010) (186)
Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing (2012) (180)
Long-Term Outcome in Methylmalonic Acidurias Is Influenced by the Underlying Defect (mut0, mut−, cblA, cblB) (2007) (178)
Clinical and molecular characterisation of hereditary dopamine transporter deficiency syndrome: an observational cohort and experimental study (2010) (173)
Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: second revision (2017) (163)
Secondary mitochondrial dysfunction in propionic aciduria: a pathogenic role for endogenous mitochondrial toxins. (2006) (163)
Deficient methylation and formylation of mt-tRNAMet wobble cytosine in a patient carrying mutations in NSUN3 (2016) (159)
Mevalonate kinase deficiencies: from mevalonic aciduria to hyperimmunoglobulinemia D syndrome (2006) (157)
eIF2B-related disorders: antenatal onset and involvement of multiple organs. (2003) (156)
Newborn screening programmes in Europe; arguments and efforts regarding harmonization. Part 1 - From blood spot to screening result (2012) (152)
Neurodegeneration in Methylmalonic Aciduria Involves Inhibition of Complex II and the Tricarboxylic Acid Cycle, and Synergistically Acting Excitotoxicity* (2002) (151)
Neurodegeneration in Methylmalonic Aciduria Involves Inhibition of Complex II and the Tricarboxylic Acid Cycle, and Synergistically Acting Excitotoxicity* (2002) (151)
One Liver for Four Children: First Clinical Series of Liver Cell Transplantation for Severe Neonatal Urea Cycle Defects (2009) (150)
Use of guidelines improves the neurological outcome in glutaric aciduria type I (2010) (148)
L‐2‐hydroxyglutaric acidemia: A novel inherited neurometabolic disease (1992) (147)
Newborn screening for disorders of fatty-acid oxidation: experience and recommendations from an expert meeting (2010) (145)
Dynamic changes of striatal and extrastriatal abnormalities in glutaric aciduria type I. (2009) (142)
Intracerebral accumulation of glutaric and 3‐hydroxyglutaric acids secondary to limited flux across the blood–brain barrier constitute a biochemical risk factor for neurodegeneration in glutaryl‐CoA dehydrogenase deficiency (2006) (141)
Guideline for the diagnosis and management of glutaryl-CoA dehydrogenase deficiency (glutaric aciduria type I) (2007) (140)
Determinants of Blood Pressure in Preschool Children: The Role of Parental Smoking (2011) (139)
Efficacy and outcome of expanded newborn screening for metabolic diseases - Report of 10 years from South-West Germany * (2011) (134)
Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency (2017) (133)
Deficiency of UDP-galactose:N-acetylglucosamine beta-1,4-galactosyltransferase I causes the congenital disorder of glycosylation type IId. (2002) (132)
High prevalence of vitamin D deficiency in young children in a highly sunny humid country: a global health problem. (2009) (129)
Feasibility study and control values of transient elastography in healthy children (2012) (127)
Prevalence of SARS-CoV-2 Infection in Children and Their Parents in Southwest Germany (2020) (126)
Organic Acid Analysis (2003) (125)
Organic Acid Analysis (2003) (125)
Glutaric aciduria type I: From clinical, biochemical and molecular diversity to successful therapy (1999) (125)
4-Hydroxybutyric acid and the clinical phenotype of succinic semialdehyde dehydrogenase deficiency, an inborn error of GABA metabolism. (1998) (125)
Pyridoxal 5′-phosphate may be curative in early-onset epileptic encephalopathy (2007) (124)
Sepiapterin reductase deficiency: A Treatable Mimic of Cerebral Palsy (2012) (123)
Vitamin D deficiency in healthy children in a sunny country: associated factors (2009) (123)
Tyrosine hydroxylase deficiency causes progressive encephalopathy and dopa‐nonresponsive dystonia (2003) (121)
Mutation analysis in glutaric aciduria type I (2000) (120)
NMDA receptor activation and respiratory chain complex V inhibition contribute to neurodegeneration in d‐2‐hydroxyglutaric aciduria (2002) (120)
Expanded newborn screening in Europe 2007 (2007) (119)
Congenital disorders of autophagy: an emerging novel class of inborn errors of neuro-metabolism. (2016) (118)
Lack of creatine in muscle and brain in an adult with GAMT deficiency (2003) (113)
Pathomechanisms of neurodegeneration in glutaryl‐CoA dehydrogenase deficiency (2004) (112)
Deficiency in SLC25A1, encoding the mitochondrial citrate carrier, causes combined D-2- and L-2-hydroxyglutaric aciduria. (2013) (112)
Bioenergetics in Glutaryl-Coenzyme A Dehydrogenase Deficiency (2005) (112)
Progressive Infantile Neurodegeneration Caused by 2-Methyl-3-Hydroxybutyryl-CoA Dehydrogenase Deficiency: A Novel Inborn Error of Branched-Chain Fatty Acid and Isoleucine Metabolism (2000) (110)
Stable-Isotope Dilution Analysis of D- and L-2-Hydroxyglutaric Acid: Application to the Detection and Prenatal Diagnosis of D- and L-2-Hydroxyglutaric Acidemias (1993) (109)
An international survey of patients with tetrahydrobiopterin deficiencies presenting with hyperphenylalaninaemia (2012) (106)
Sensitivity and specificity of free and total glutaric acid and 3-hydroxyglutaric acid measurements by stable-isotope dilution assays for the diagnosis of glutaric aciduria type I (1999) (105)
Sensitivity and specificity of free and total glutaric acid and 3-hydroxyglutaric acid measurements by stable-isotope dilution assays for the diagnosis of glutaric aciduria type I (1999) (105)
Design principles for virtual patients: a focus group study among students (2009) (104)
A non-enzymatic function of 17β-hydroxysteroid dehydrogenase type 10 is required for mitochondrial integrity and cell survival (2010) (104)
Diagnosis and management of glutaric aciduria type I (1998) (103)
Biallelic Mutations in DNAJC12 Cause Hyperphenylalaninemia, Dystonia, and Intellectual Disability. (2017) (103)
Therapeutic modulation of cerebral L-lysine metabolism in a mouse model for glutaric aciduria type I. (2011) (102)
Physician's Guide to the Treatment and Follow-Up of Metabolic Diseases (2006) (101)
Biochemical hallmarks of tyrosine hydroxylase deficiency. (1998) (101)
Decline of Acute Encephalopathic Crises in Children with Glutaryl-CoA Dehydrogenase Deficiency Identified by Newborn Screening in Germany (2007) (100)
Beta-carotene cleavage products after oxidation mediated by hypochlorous acid--a model for neutrophil-derived degradation. (2003) (99)
Leukotrienes: Biosynthesis, Metabolism, and Pathophysiologic Significance (1995) (98)
Biallelic Mutations in NBAS Cause Recurrent Acute Liver Failure with Onset in Infancy (2015) (98)
Impaired Mitochondrial Dynamics and Mitophagy in Neuronal Models of Tuberous Sclerosis Complex. (2016) (97)
PRRT2 Mutations are the major cause of benign familial infantile seizures (2012) (95)
A novel cerebello-ocular syndrome with abnormal glycosylation due to abnormalities in dolichol metabolism. (2010) (94)
EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy (2016) (93)
Normal Clinical Outcome in Untreated Subjects with Mild Hyperphenylalaninemia (2001) (92)
Newborn screening programmes in Europe; arguments and efforts regarding harmonization. Part 2 – From screening laboratory results to treatment, follow-up and quality assurance (2012) (91)
Newborn population screening for classic homocystinuria by determination of total homocysteine from Guthrie cards. (2010) (87)
Recurrent acute liver failure due to NBAS deficiency: phenotypic spectrum, disease mechanisms, and therapeutic concepts (2016) (86)
Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement (2015) (86)
Leukoencephalopathy with ataxia, hypodontia, and hypomyelination (2005) (85)
Glutaryl-coenzyme A dehydrogenase deficiency: a distinct encephalopathy. (1991) (85)
The Genetic Landscape and Epidemiology of Phenylketonuria. (2020) (84)
DHTKD1 mutations cause 2-aminoadipic and 2-oxoadipic aciduria. (2012) (82)
Late-onset neurologic disease in glutaryl-CoA dehydrogenase deficiency (2005) (82)
Safety and efficacy of mTOR inhibitor treatment in patients with tuberous sclerosis complex under 2 years of age – a multicenter retrospective study (2019) (81)
Emergency management of inherited metabolic diseases (2002) (80)
Mevalonate kinase deficiency: enlarging the clinical and biochemical spectrum. (2003) (79)
Methylmalonic Acid, a Biochemical Hallmark of Methylmalonic Acidurias but No Inhibitor of Mitochondrial Respiratory Chain* (2003) (77)
Erythropoietic and hepatic porphyrias (2000) (73)
Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening. (2014) (72)
3-Hydroxyglutaric and glutaric acids are neurotoxic through NMDA receptors in vitro (1999) (71)
Outcome and long-term follow-up of 36 patients with tetrahydrobiopterin deficiency. (2008) (71)
An international classification of inherited metabolic disorders (ICIMD) (2020) (71)
Liver, liver cell and stem cell transplantation for the treatment of urea cycle defects. (2010) (70)
Effects of cholesterol and simvastatin treatment in patients with Smith–Lemli–Opitz syndrome (SLOS) (2007) (70)
beta-Ureidopropionase deficiency: an inborn error of pyrimidine degradation associated with neurological abnormalities. (2004) (69)
D-2-Hydroxyglutaric aciduria: Further clinical delineation (1999) (69)
Diversity in the incidence and spectrum of organic acidemias, fatty acid oxidation disorders, and amino acid disorders in Asian countries: Selective screening vs. expanded newborn screening (2018) (68)
Liver Transplantation for Inborn Errors of Metabolism (2005) (68)
A method for quantitative acylcarnitine profiling in human skin fibroblasts using unlabelled palmitic acid: diagnosis of fatty acid oxidation disorders and differentiation between biochemical phenotypes of MCAD deficiency. (2002) (67)
Comprehensive detection of disorders of purine and pyrimidine metabolism by HPLC with electrospray ionization tandem mass spectrometry. (2006) (67)
Bi-allelic Truncating Mutations in TANGO2 Cause Infancy-Onset Recurrent Metabolic Crises with Encephalocardiomyopathy. (2016) (67)
Congenital disorder of glycosylation IId (CDG-IId) -- a new entity: clinical presentation with Dandy-Walker malformation and myopathy. (2002) (66)
Frequencies of inherited organic acidurias and disorders of mitochondrial fatty acid transport and oxidation in Germany (2004) (66)
Biallelic Variants in UBA5 Reveal that Disruption of the UFM1 Cascade Can Result in Early-Onset Encephalopathy. (2016) (65)
Five years of experience with biochemical cystic fibrosis newborn screening based on IRT/PAP in Germany (2015) (64)
Neurological manifestations of organic acid disorders (2005) (63)
Normal dopaminergic and serotonergic metabolites in cerebrospinal fluid and blood of restless legs syndrome patients (2004) (63)
Knowledge base and mini-expert platform for the diagnosis of inborn errors of metabolism (2017) (62)
Successful prenatal mannose treatment for congenital disorder of glycosylation-Ia in mice (2011) (62)
Molecular and functional characterisation of mild MCAD deficiency (2001) (61)
Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies (2020) (60)
Pathophysiology, diagnosis, and treatment of methylmalonic aciduria—recent advances and new challenges (2004) (60)
Glutaric aciduria and suspected child abuse (1999) (60)
Phenylalanine Reduces Synaptic Density in Mixed Cortical Cultures from Mice (2006) (59)
Biallelic IARS Mutations Cause Growth Retardation with Prenatal Onset, Intellectual Disability, Muscular Hypotonia, and Infantile Hepatopathy. (2016) (59)
Implementation of extended neonatal screening and a metabolic unit in the State of Qatar: Developing and optimizing strategies in cooperation with the Neonatal Screening Center in Heidelberg (2007) (58)
β‐Ureidopropionase deficiency: A novel inborn error of metabolism discovered using NMR spectroscopy on urine (2001) (58)
Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy (2017) (57)
Improving Pediatric Basic Life Support Performance Through Blended Learning With Web-Based Virtual Patients: Randomized Controlled Trial (2015) (57)
Combined D-2- and L-2-hydroxyglutaric aciduria with neonatal onset encephalopathy: a third biochemical variant of 2-hydroxyglutaric aciduria? (2000) (55)
Glutaric aciduria type I: ultrasonographic demonstration of early signs (1999) (54)
Ca(2+) and Na(+) dependence of 3-hydroxyglutarate-induced excitotoxicity in primary neuronal cultures from chick embryo telencephalons. (2002) (54)
Health-Related Quality of Life in Adolescents with Inflammatory Bowel Disease Depends on Disease Activity and Psychiatric Comorbidity (2015) (54)
Impact of short- and medium-chain organic acids, acylcarnitines, and acyl-CoAs on mitochondrial energy metabolism. (2008) (53)
Phenylketonuria mutations in Germany (1999) (53)
Clinical and biochemical characterization of patients with early infantile onset of autosomal recessive GTP cyclohydrolase I deficiency without hyperphenylalaninemia (2011) (53)
Mutations in the AUH gene cause 3‐methylglutaconic aciduria type I (2003) (52)
Inherited metabolic diseases : a clinical approach (2009) (52)
Dihydropyrimidinase deficiency: Phenotype, genotype and structural consequences in 17 patients. (2010) (52)
Natural course of glutamine synthetase deficiency in a 3 year old patient. (2011) (52)
Lethal fetal and early neonatal presentation of adenylosuccinate lyase deficiency: observation of 6 patients in 4 families. (2007) (51)
Newborn screening: A disease‐changing intervention for glutaric aciduria type 1 (2018) (51)
Biochemical and molecular genetic characteristics of the severe form of tyrosine hydroxylase deficiency. (1999) (51)
Defective metabolism of Leukotriene B4 in the Sjögren–Larsson Syndrome (2001) (51)
Epilepsy and inborn errors of metabolism in children (2009) (50)
Adenosine kinase deficiency: expanding the clinical spectrum and evaluating therapeutic options (2016) (50)
Neonatal mortality and outcome at the end of the first year of life in early onset urea cycle disorders—review and meta-analysis of observational studies published over more than 35 years (2016) (50)
Glutaryl-CoA dehydrogenase deficiency: region-specific analysis of organic acids and acylcarnitines in post mortem brain predicts vulnerability of the putamen. (2003) (49)
Inborn errors of metabolism and motor disturbances in children (2009) (49)
Glutaryl-CoA dehydrogenase deficiency: region-specific analysis of organic acids and acylcarnitines in post mortem brain predicts vulnerability of the putamen. (2003) (49)
A common mutation in the CBS gene explains a high incidence of homocystinuria in the Qatari population (2006) (49)
Iron and Vitamin D Levels among Autism Spectrum Disorders Children (2017) (49)
Decreased Plasma Ubiquinone-10 Concentration in Patients with Mevalonate Kinase Deficiency (1993) (49)
Cerebrospinal fluid investigations for neurometabolic disorders. (1998) (49)
Aromatic amino acid decarboxylase deficiency: Molecular and metabolic basis and therapeutic outlook. (2019) (48)
Initial evaluation of a biochemical cystic fibrosis newborn screening by sequential analysis of immunoreactive trypsinogen and pancreatitis-associated protein (IRT/PAP) as a strategy that does not involve DNA testing in a Northern European population (2010) (48)
Severe dysfunction of respiratory chain and cholesterol metabolism in Atp7b(-/-) mice as a model for Wilson disease. (2011) (48)
Tyrosine hydroxylase deficiency with severe clinical course: clinical and biochemical investigations and optimization of therapy. (2000) (47)
Anserine inhibits carnosine degradation but in human serum carnosinase (CN1) is not correlated with histidine dipeptide concentration. (2011) (47)
Relevance of allosteric conformations and homocarnosine concentration on carnosinase activity (2010) (47)
A framework to start the debate on neonatal screening policies in the EU: an Expert Opinion Document (2013) (47)
Optimized spectrophotometric assay for the completely activated pyruvate dehydrogenase complex in fibroblasts. (2005) (47)
Molecular neonatal screening for homocystinuria in the Qatari population (2009) (47)
Public, expert and patients' opinions on preimplantation genetic diagnosis (PGD) in Germany. (2005) (46)
Complementary dietary treatment using lysine-free, arginine-fortified amino acid supplements in glutaric aciduria type I - A decade of experience. (2012) (46)
DNAJC12 deficiency: A new strategy in the diagnosis of hyperphenylalaninemias. (2018) (45)
A branch site mutation leading to aberrant splicing of the human tyrosine hydroxylase gene in a child with a severe extrapyramidal movement disorder (2000) (45)
Does prolonged breastfeeding reduce the risk for childhood leukemia and lymphomas? (2008) (45)
Adenylosuccinase deficiency: possibly underdiagnosed encephalopathy with variable clinical features. (1999) (45)
Neonatal screening for glutaric aciduria type I: Strategies to proceed (2006) (45)
Intrastriatal administration of 3-hydroxyglutaric acid induces convulsions and striatal lesions in rats (2001) (45)
Modulation of glutamatergic and GABAergic neurotransmission in glutaryl-CoA dehydrogenase deficiency (2004) (44)
Allelic phenotype values: a model for genotype-based phenotype prediction in phenylketonuria (2018) (44)
Newborn Screening for Vitamin B12 Deficiency in Germany-Strategies, Results, and Public Health Implications. (2019) (43)
Newborn Screening for Vitamin B12 Deficiency in Germany-Strategies, Results, and Public Health Implications. (2019) (43)
Evidence that 3-hydroxyglutaric acid interacts with NMDA receptors in synaptic plasma membranes from cerebral cortex of young rats (2004) (43)
Incidence and short-term outcome of children with symptomatic presentation of organic acid and fatty acid oxidation disorders in Germany. (2002) (43)
SCYL1 variants cause a syndrome with low γ-glutamyl-transferase cholestasis, acute liver failure, and neurodegeneration (CALFAN) (2018) (43)
Acylcarnitine Profiles of Preterm Infants Over the First Four Weeks of Life (2002) (42)
Linking mitochondrial dysfunction to neurodegeneration in lysosomal storage diseases (2017) (42)
Ultra-orphan diseases: a quantitative analysis of the natural history of molybdenum cofactor deficiency (2015) (42)
Learner preferences regarding integrating, sequencing and aligning virtual patients with other activities in the undergraduate medical curriculum: A focus group study (2013) (42)
Clinical and laboratory findings in twins with neonatal epileptic encephalopathy mimicking aromatic L-amino acid decarboxylase deficiency. (2002) (41)
Aromatic L-amino acid decarboxylase deficiency with hyperdopaminuria. Clinical and laboratory findings in response to different therapies. (2002) (41)
Impaired Synthesis of Lipoxygenase Products in Glutathione Synthetase Deficiency (1994) (41)
Genetic basis of mitochondrial HMG-CoA synthase deficiency (2001) (41)
Enzymatic and metabolic evidence for a region specific mitochondrial dysfunction in brains of murine succinic semialdehyde dehydrogenase deficiency (Aldh5a1 −/− mice) (2007) (41)
A prospective three-step intervention study to prevent medication errors in drug handling in paediatric care. (2015) (41)
A review of biochemical and molecular genetic aspects of tyrosine hydroxylase deficiency including a novel mutation (291delC) (1999) (40)
Emerging role of autophagy in pediatric neurodegenerative and neurometabolic diseases (2014) (40)
Diagnosis of tetrahydrobiopterin deficiency using filter paper blood spots: further development of the method and 5 years experience (2011) (39)
Living with an inborn error of metabolism detected by newborn screening—Parents’ perspectives on child development and impact on family life (2014) (39)
Impact of clinical exomes in neurodevelopmental and neurometabolic disorders. (2017) (39)
Nutritional Rickets among Children in a Sun Rich Country (2010) (39)
Pyridoxal phosphate-dependent neonatal epileptic encephalopathy (2009) (39)
Quantitative clinical characteristics of 53 patients with MPS VII: a cross-sectional analysis (2017) (39)
Clinical course of 63 patients with neonatal onset urea cycle disorders in the years 2001–2013 (2016) (39)
Incidence, disease onset and short-term outcome in urea cycle disorders –cross-border surveillance in Germany, Austria and Switzerland (2017) (39)
Outcome of parent-physician communication skills training for pediatric residents. (2011) (38)
Recessive Mutations in PCBD1 Cause a New Type of Early-Onset Diabetes (2014) (38)
Sepiapterin reductase deficiency: clinical presentation and evaluation of long-term therapy. (2006) (38)
Pressure for drug development in lysosomal storage disorders – a quantitative analysis thirty years beyond the US orphan drug act (2015) (38)
White matter disease in cerebral organic acid disorders: clinical implications and suggested pathomechanisms. (2002) (38)
Does the aromatic l-amino acid decarboxylase contribute to thyronamine biosynthesis? (2012) (38)
Differential diagnosis in patients with suspected bile acid synthesis defects. (2012) (37)
Defining clinical subgroups and genotype–phenotype correlations in NBAS-associated disease across 110 patients (2019) (37)
Isolated 3-methylcrotonyl-CoA carboxylase deficiency: evidence for an allele-specific dominant negative effect and responsiveness to biotin therapy. (2004) (37)
Simultaneous determination of 3-hydroxypropionic acid, methylmalonic acid and methylcitric acid in dried blood spots: Second-tier LC-MS/MS assay for newborn screening of propionic acidemia, methylmalonic acidemias and combined remethylation disorders (2017) (37)
Mutations in the cyclic adenosine monophosphate response element of the tyrosine hydroxylase gene (2007) (36)
Mutations in PPCS, Encoding Phosphopantothenoylcysteine Synthetase, Cause Autosomal-Recessive Dilated Cardiomyopathy. (2018) (36)
Molecular and clinical spectra of FBXL4 deficiency (2017) (36)
The impact of dietary and lifestyle factors on the risk of dental caries among young children in Qatar. (2013) (36)
Comparison of different IRT-PAP protocols to screen newborns for cystic fibrosis in three central European populations. (2014) (35)
Atypical (Mild) Forms of Dihydropteridine Reductase Deficiency: Neurochemical Evaluation and Mutation Detection (1992) (35)
Liver Cell Transplantation: Basic Investigations for Safe Application in Infants and Small Children (2009) (34)
A familial progressive neurodegenerative disease with 2-oxoglutaric aciduria (1982) (34)
Evaluation of 6-year application of the enzymatic colorimetric phenylalanine assay in the setting of neonatal screening for phenylketonuria. (2002) (34)
Vitamin D and dexamethasone inversely regulate parathyroid hormone-induced regulator of G protein signaling-2 expression in osteoblast-like cells. (2003) (34)
Monitoring of Intraportal Liver Cell Application in Children (2010) (34)
Impaired Mitochondrial Dynamics And Mitophagy In Neuronal Models Of Tuberous Sclerosis Complex. (2016) (34)
Bi-allelic ADPRHL2 Mutations Cause Neurodegeneration with Developmental Delay, Ataxia, and Axonal Neuropathy. (2018) (33)
Co-expression of phenylalanine hydroxylase variants and effects of interallelic complementation on in vitro enzyme activity and genotype-phenotype correlation. (2016) (33)
Diagnosis of glutaric aciduria type 1 by measuring 3-hydroxyglutaric acid in dried urine spots by liquid chromatography tandem mass spectrometry (2011) (32)
De novo variants in neurodevelopmental disorders—experiences from a tertiary care center (2021) (32)
Newborn screening by tandem mass spectrometry for glutaric aciduria type 1: a cost-effectiveness analysis (2013) (32)
Significant prevalence of sickle cell disease in Southwest Germany: results from a birth cohort study indicate the necessity for newborn screening (2016) (31)
L-alanine supplementation in late infantile glycogen storage disease type II. (2002) (31)
Bridging the information gap between isotope ratio mass spectrometry and conventional mass spectrometry (1994) (31)
Methylmalonic acid induces excitotoxic neuronal damage in vitro (2000) (31)
Carnosine metabolism in diabetes is altered by reactive metabolites (2015) (31)
3‐Ureidopropionate contributes to the neuropathology of 3‐ureidopropionase deficiency and severe propionic aciduria: A hypothesis (2001) (31)
Mental retardation and inborn errors of metabolism (2009) (31)
Inherited disorders of cholesterol biosynthesis. (2001) (30)
Variant of dihydropteridine reductase deficiency without hyperphenylalaninaemia: Effect of oral phenylalanine loading (1999) (30)
Phosphomannomutase deficiency is the main cause of carbohydrate-deficient glycoprotein syndrome with type I isoelectrofocusing pattern of serum sialotransferrins (1997) (30)
The diagnosis of mitochondrial HMG-CoA synthase deficiency. (2002) (30)
Tyrosine Hydroxylase Deficiency (2006) (30)
Dihydropyridmidinase deficiency and congenital microvillous atrophy: Coincidence or genetic relation? (1997) (29)
Improved diagnostics lead to identification of three new patients with congenital disorder of glycosylation‐Ip (2012) (29)
RINT1 Bi-allelic Variations Cause Infantile-Onset Recurrent Acute Liver Failure and Skeletal Abnormalities. (2019) (29)
Early Onset Epilepsy and Inherited Metabolic Disorders: Diagnosis and Management (2010) (29)
The influence of L-dopa on methylation capacity in aromatic L-amino acid decarboxylase deficiency: Biochemical findings in two patients (2000) (29)
Robust and durable serological response following pediatric SARS-CoV-2 infection (2022) (28)
Heterogeneous clinical spectrum of DNAJC12-deficient hyperphenylalaninemia: from attention deficit to severe dystonia and intellectual disability (2017) (28)
Glutaric aciduria type III: A distinctive non-disease? (2002) (27)
Hydrocephalus internus in two patients with 5,10-methylenetetrahydrofolate reductase deficiency. (2000) (27)
Inborn errors of metabolism at the turn of the millennium. (2001) (27)
Accurate measurement of free carnitine in dried blood spots by isotope-dilution electrospray tandem mass spectrometry without butylation. (2003) (26)
Recurrent acute liver failure and mitochondriopathy in a case of Wolcott–Rallison syndrome (2008) (26)
Clinical characteristics of 248 patients with Krabbe disease: quantitative natural history modeling based on published cases (2019) (26)
Mevalonate kinase deficiency and autoinflammatory disorders. (2007) (26)
Syndromic intellectual disability: a new phenotype caused by an aromatic amino acid decarboxylase gene (DDC) variant. (2015) (25)
Infantile parkinsonism-dystonia and elevated dopamine metabolites in CSF (2004) (25)
Lysine intake and neurotoxicity in glutaric aciduria type I: towards a rationale for therapy? (2006) (25)
Liver cell transplantation for the treatment of inborn errors of metabolism (2008) (25)
Nigrostriatal dysfunction in X‐linked dystonia‐parkinsonism (DYT3) (2007) (25)
Exploring the validity and reliability of a questionnaire for evaluating virtual patient design with a special emphasis on fostering clinical reasoning (2015) (25)
Regulatory Adaptation of Isoprenoid Biosynthesis and the LDL Receptor Pathway in Fibroblasts from Patients with Mevalonate Kinase Deficiency (1997) (25)
The molecular basis of phenylalanine hydroxylase deficiency in Croatia (2003) (25)
Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disorders—A successful strategy for clinical research of rare diseases (2018) (24)
Exome sequencing results in identification and treatment of brain dopamine-serotonin vesicular transport disease (2017) (24)
Acrodermatitis acidemica secondary to malnutrition in glutaric aciduria type I. (2001) (24)
Selective Decrease in Central Nervous System Serotonin Turnover in Children with Dopa-Nonresponsive Dystonia (2002) (24)
Long-term Outcomes of Individuals With Metabolic Diseases Identified Through Newborn Screening (2020) (24)
Selective screening for inborn errors of metabolism-past, present and future (2005) (24)
Medium-Chain Acyl-CoA Dehydrogenase Deficiency: Evaluation of Genotype-Phenotype Correlation in Patients Detected by Newborn Screening. (2015) (24)
High urgency liver transplantation in ornithine transcarbamylase deficiency presenting with acute liver failure (2009) (24)
Moderate Weight Reduction in an Outpatient Obesity Intervention Program Significantly Reduces Insulin Resistance and Risk Factors for Cardiovascular Disease in Severely Obese Adolescents (2011) (24)
Pyridoxal phosphate-dependent neonatal epileptic encephalopathy (2007) (24)
CRISPR RNA-guided FokI nucleases repair a PAH variant in a phenylketonuria model (2016) (23)
Mutation analysis in glycogen storage disease type 1 non-a (2000) (23)
A cross-sectional quantitative analysis of the natural history of Farber disease: an ultra-orphan condition with rheumatologic and neurological cardinal disease features (2017) (23)
Defects in amino acid catabolism and the urea cycle. (2013) (23)
Management of movement disorders in glutaryl-CoA dehydrogenase deficiency: Anticholinergic drugs and botulinum toxin as additional therapeutic options (2004) (23)
A new case of CDG-x with stereotyped dystonic hand movements and optic atrophy (2002) (23)
Compound heterozygous SPATA5 variants in four families and functional studies of SPATA5 deficiency (2018) (23)
Cytosine arabinofuranoside-induced activation of astrocytes increases the susceptibility of neurons to glutamate due to the release of soluble factors (2003) (22)
Organic acids in cerebrospinal fluid and plasma of patients withl-2-hydroxyglutaric aciduria (1995) (22)
Impact of newborn screening and quality of therapy on the neurological outcome in glutaric aciduria type 1: a meta-analysis (2020) (22)
Newborn screening for remethylation disorders and vitamin B12 deficiency-evaluation of new strategies in cohorts from Qatar and Germany (2017) (22)
Pooled RT-qPCR testing for SARS-CoV-2 surveillance in schools - a cluster randomised trial (2021) (22)
Relationship between genotype, phenylalanine hydroxylase expression and in vitro activity and metabolic phenotype in phenylketonuria. (2018) (22)
Fumarase deficiency presenting with periventricular cysts (2005) (22)
Somatic mosaicism of a greater than 1.7-Mb deletion of genomic DNA involving the entire NF1 gene as verified by FISH: further evidence for a contiguous gene syndrome in 17q11.2. (1999) (21)
Cutis laxa, exocrine pancreatic insufficiency and altered cellular metabolomics as additional symptoms in a new patient with ATP6AP1-CDG. (2018) (21)
Pathobiochemical implications of hyperdopaminuria in patients with aromatic L-amino acid decarboxylase deficiency (2000) (20)
Pubertal development in ALG6 deficiency (congenital disorder of glycosylation type Ic). (2011) (20)
Ernst Moro (1874–1951)—A great pediatric career started at the rise of university-based pediatric research but was curtailed in the shadows of Nazi laws (2005) (20)
Novel challenges in spinal muscular atrophy – How to screen and whom to treat? (2018) (20)
Issues with European guidelines for phenylketonuria. (2017) (20)
Transmission of Severe Acute Respiratory Syndrome Coronavirus 2 in Households with Children, Southwest Germany, May–August 2020 (2021) (20)
The pattern of Down syndrome among children in Qatar: a population-based study. (2006) (20)
Drug Handling in a Paediatric Intensive Care Unit – Can Errors be Prevented by a Three-Step Intervention? (2014) (19)
Early signs and course of disease of glutaryl-CoA dehydrogenase deficiency (1995) (19)
FDA orphan drug designations for lysosomal storage disorders – a cross-sectional analysis (2020) (19)
Atypical and variable clinical presentation of glutaric aciduria type I. (2000) (19)
Detection of β-ureidopropionase deficiency with HPLC–electrospray tandem mass spectrometry and confirmation of the defect at the enzyme level (2001) (19)
High throughput newborn screening for aromatic ʟ‐amino‐acid decarboxylase deficiency by analysis of concentrations of 3‐O‐methyldopa from dried blood spots (2019) (19)
High throughput newborn screening for aromatic ʟ‐amino‐acid decarboxylase deficiency by analysis of concentrations of 3‐O‐methyldopa from dried blood spots (2019) (19)
Clinical and biochemical footprints of inherited metabolic diseases. I. Movement disorders. (2019) (19)
Cerebral Organic Acid Disorders and Other Disorders of Lysine Catabolism (2012) (18)
Phenylalanine Effects on Brain Function in Adult Phenylketonuria (2020) (18)
Early prediction of phenotypic severity in Citrullinemia Type 1 (2019) (18)
Electronic assessment of clinical reasoning in clerkships: A mixed-methods comparison of long-menu key-feature problems with context-rich single best answer questions (2017) (18)
Phenylalanine loading in pediatric patients with dopa-responsive dystonia: revised test protocol and pediatric cutoff values (2010) (18)
A new subtype of a congenital disorder of glycosylation (CDG) with mild clinical manifestations. (2001) (18)
Newborn Screening Programmes in Europe, Arguments and Efforts Regarding Harmonisation: Focus on Organic Acidurias. (2016) (18)
A Cross-sectional Quantitative Analysis of the Natural History of Alpha-mannosidosis (2019) (17)
Acute encephalopathy despite early therapy in a patient with homozygosity for E365K in the glutaryl-coenzyme A dehydrogenase gene. (2001) (17)
50 years of newborn screening (2014) (17)
Prenatal Presentation and Diagnostic Evaluation of Suspected Smith–Lemli–Opitz (RSH) Syndrome (2013) (17)
Alanine Aminotransferase Elevation in Obese Infants and Children: A Marker of Early Onset Non Alcoholic Fatty Liver Disease (2014) (17)
Newborn Screening for Vitamin B6 Non-responsive Classical Homocystinuria: Systematical Evaluation of a Two-Tier Strategy. (2016) (17)
Thirty Years of Orphan Drug Legislation and the Development of Drugs to Treat Rare Seizure Conditions: A Cross Sectional Analysis (2016) (17)
Hereditary Orotic Aciduria with Epilepsy and without Megaloblastic Anemia (2015) (17)
Dopamine-Responsive Growth-Hormone Deficiency and Central Hypothyroidism in Sepiapterin Reductase Deficiency. (2015) (17)
Qualitative urinary organic acid analysis: Methodological approaches and performance (2008) (17)
Extended diagnosis of purine and pyrimidine disorders from urine: LC MS/MS assay development and clinical validation (2019) (17)
A novel autosomal recessive TERT T1129P mutation in a dyskeratosis congenita family leads to cellular senescence and loss of CD34+ hematopoietic stem cells not reversible by mTOR-inhibition (2015) (16)
Phenylalanine can be detected in brain tissue of healthy subjects by 1H magnetic resonance spectroscopy (2003) (16)
Ten Years after the International Committee of Medical Journal Editors’ Clinical Trial Registration Initiative, One Quarter of Phase 3 Pediatric Epilepsy Clinical Trials Still Remain Unpublished: A Cross Sectional Analysis (2016) (16)
Novel Treatments for Rare Cancers: The U.S. Orphan Drug Act Is Delivering-A Cross-Sectional Analysis. (2016) (16)
Measurement of bile acid CoA esters by high-performance liquid chromatography-electrospray ionisation tandem mass spectrometry (HPLC-ESI-MS/MS). (2005) (16)
Novel variants and clinical symptoms in four new ALG3‐CDG patients, review of the literature, and identification of AAGRP‐ALG3 as a novel ALG3 variant with alanine and glycine‐rich N‐terminus (2019) (16)
Pharmacologic rescue of hyperammonemia-induced toxicity in zebrafish by inhibition of ornithine aminotransferase (2018) (15)
Towards quality assurance in the determination of lysosomal enzymes: A two-centre study (2003) (15)
A cross-sectional quantitative analysis of the natural history of free sialic acid storage disease—an ultra-orphan multisystemic lysosomal storage disorder (2018) (15)
Genotypic diversity and phenotypic spectrum of infantile liver failure syndrome type 1 due to variants in LARS1 (2020) (15)
Identification of SLC20A1 and SLC15A4 among other genes as potential risk factors for combined pituitary hormone deficiency (2018) (15)
High incidence of maternal vitamin B12 deficiency detected by newborn screening: first results from a study for the evaluation of 26 additional target disorders for the German newborn screening panel (2018) (15)
Use of the middle colic vein for liver cell transplantation in infants and small children. (2008) (15)
High incidence of maternal vitamin B12 deficiency detected by newborn screening: first results from a study for the evaluation of 26 additional target disorders for the German newborn screening panel (2018) (15)
The Phenotypic Spectrum of PRRT2-Associated Paroxysmal Neurologic Disorders in Childhood (2020) (15)
Enhanced urinary excretion of leukotriene E4 in patients with mevalonate kinase deficiency. (1993) (15)
L-2-Hydroxyglutaric aciduria: Normal L-2-hydroxyglutarate dehydrogenase activity in liver from two new patients (1997) (14)
Quantitative natural history characterization in a cohort of 142 published cases of patients with galactosialidosis—A cross‐sectional study (2019) (14)
Subdural haematoma in a child with glutaric aciduria type I (1998) (14)
Abuse or metabolic disorder? (1998) (14)
Vitamin D deficiency and risk of dental caries among young children: A public health problem (2013) (14)
A Homozygous Splice Site Mutation in SLC25A42, Encoding the Mitochondrial Transporter of Coenzyme A, Causes Metabolic Crises and Epileptic Encephalopathy. (2019) (14)
Clinical findings and a therapeutic trial in the first patient with beta-ureidopropionase deficiency. (2006) (14)
Loss of TNR causes a nonprogressive neurodevelopmental disorder with spasticity and transient opisthotonus (2020) (13)
Evaluation of trigger factors of acute encephalopathy in glutaric aciduria type I: Fever and tumour necrosis factor-α (2000) (13)
Large heterozygous deletion masquerading as homozygous missense mutation: A pitfall in diagnostic mutation analysis (1999) (13)
Quantification of methylcitrate in dried urine spots by liquid chromatography tandem mass spectrometry for the diagnosis of propionic and methylmalonic acidemias. (2018) (13)
Critical appraisal of genotype assessment in molybdenum cofactor deficiency (2017) (13)
Newborn screening for severe combined immunodeficiency using a novel and simplified method to measure T-cell excision circles (TREC). (2017) (12)
Quantitative Acylcarnitine Profiling in Peripheral Blood Mononuclear Cells Using In Vitro Loading With Palmitic and 2-Oxoadipic Acids: Biochemical Confirmation of Fatty Acid Oxidation and Organic Acid Disorders (2005) (12)
Refining Genotypes and Phenotypes in KCNA2-Related Neurological Disorders (2021) (12)
Diagnosis and therapeutic monitoring of inborn errors of creatine metabolism and transport using liquid chromatography-tandem mass spectrometry in urine, plasma and CSF. (2014) (12)
Recurrent brain edema in ornithine-transcarbamylase deficiency (1999) (12)
Defining the hidden evidence in autism research. Forty per cent of rigorously designed clinical trials remain unpublished ‐ a cross‐sectional analysis (2017) (12)
Evaluation of population newborn screening practices for rare disorders in member states of the European Union (2010) (12)
Point shear wave elastography (pSWE) using Acoustic Radiation Force Impulse (ARFI) imaging: a feasibility study and norm values for renal parenchymal stiffness in healthy children and adolescents. (2017) (12)
Principles of pediatric emergency care. (2009) (12)
Late-onset multiple acyl-CoA dehydrogenase deficiency: A frequently missed diagnosis? (2006) (12)
Assessment of methylcitrate and methylcitrate to citrate ratio in dried blood spots as biomarkers for inborn errors of propionate metabolism (2019) (12)
Are heterocygotes for classical homocystinuria at risk of vitamin B12 and folic acid deficiency? (2007) (12)
Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines (2021) (12)
Genetic cause and prevalence of hydroxyprolinemia (2016) (11)
Neurotransmitter metabolites in CSF: An external quality control scheme (2002) (11)
Mitochondropathy presenting with non-ketotic hypoglycaemia as 3-hydroxydicarboxylic aciduria (1995) (11)
Aspartylglucosaminuria: unusual neonatal presentation in Qatari twins with a novel aspartylglucosaminidase gene mutation and 3 new cases in a Turkish family. (2014) (11)
Feature construction can improve diagnostic criteria for high-dimensional metabolic data in newborn screening for medium-chain acyl-CoA dehydrogenase deficiency. (2007) (11)
Bioenergetic dysfunction in a zebrafish model of acute hyperammonemic decompensation (2019) (11)
Health Outcomes of Infants With Vitamin B12 Deficiency Identified by Newborn Screening and Early Treated. (2021) (11)
CNDP1 genotype and renal survival in pediatric nephropathies (2016) (11)
Glycogen storage diseases of all types (2015) (11)
Genetic cause and prevalence of hydroxyprolinemia (2016) (11)
Nature and nurture in vitamin B12 deficiency (2002) (11)
Analysis of the functional muscle–bone unit of the forearm in patients with phenylketonuria by peripheral quantitative computed tomography (2017) (11)
Sedation with 4-hydroxybutyric acid: A potential pitfall in the diagnosis of SSADH deficiency (2004) (11)
Cardiac phenotype in propionic acidemia - Results of an observational monocentric study. (2020) (10)
LC-MS/MS determination of dibasic amino acids for the diagnosis of cystinuria. Application in a family affected by a novel splice-acceptor site mutation in the SLC7A9 gene (2007) (10)
A product of immunoreactive trypsinogen and pancreatitis-associated protein as second-tier strategy in cystic fibrosis newborn screening. (2016) (10)
Quantitative retrospective natural history modeling for orphan drug development (2020) (10)
Clinical Research in Vulnerable Populations: Variability and Focus of Institutional Review Boards’ Responses (2015) (10)
The first case of 3-methylcrotonyl-CoA carboxylase (MCC) deficiency responsive to biotin. (2006) (10)
Formation of 3‐hydroxyglutaric acid in glutaric aciduria type I: in vitro participation of medium chain acyl‐CoA dehydrogenase (2019) (10)
Indications for pediatric liver transplantation. Data from the Heidelberg pediatric liver transplantation program. (2007) (10)
Visual functions in phenylketonuria-evaluating the dopamine and long-chain polyunsaturated fatty acids depletion hypotheses. (2013) (10)
Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disorders—a successful strategy for clinical research of rare diseases (2018) (10)
Glycogen accumulation, central carbon metabolism, and aging of hematopoietic stem and progenitor cells (2020) (10)
From genotype to phenotype: Early prediction of disease severity in argininosuccinic aciduria (2020) (10)
Screening for congenital disorders of glycosylation in the first weeks of life (2013) (10)
The first case of 3-methylcrotonyl-CoA carboxylase (MCC) deficiency responsive to biotin. (2006) (10)
Pitfalls in phenylalanine loading test in the diagnosis of dopa-responsive dystonia. (2013) (10)
Clinical spectrum and treatment outcome of 95 children with continuous spikes and waves during sleep (CSWS). (2020) (10)
Brain MR patterns in inherited disorders of monoamine neurotransmitters: An analysis of 70 patients (2021) (9)
Targeted cerebrospinal fluid analysis for inborn errors of metabolism on an LC‐MS/MS analysis platform (2020) (9)
Newborn screening and disease variants predict neurological outcome in isovaleric aciduria (2021) (9)
Vitamin B12 Deficiency in Newborns and their Mothers—Novel Approaches to Early Detection, Treatment and Prevention of a Global Health Issue (2020) (9)
Inter-Rater Reliability of the International Cooperative Ataxia Rating Scale (ICARS) (2004) (9)
Recessive mutations in PCBD 1 cause a new type of early-onset diabetes Short title : PCBD 1 mutations cause diabetes (2014) (9)
Phenotypic diversity, disease progression, and pathogenicity of MVK missense variants in mevalonic aciduria (2021) (9)
L-dopa and selegiline for tyrosine hydroxylase deficiency. (2001) (9)
Determination of 13C Enrichment by Conventional GC-MS and GC-(MS)-C-IRMS (1995) (9)
MRI and 1H-MRS in adenosine kinase deficiency (2016) (9)
Typically asymptomatic but with robust antibody formation: Childrens unique humoral immune response to SARS-CoV-2 (2021) (9)
[Newborn Screening on Cystic Fibrosis in Germany: Comparison of the new Screening Protocol with an Alternative Protocol]. (2017) (9)
Detection of carcinogenic etheno-DNA adducts in children and adolescents with non-alcoholic steatohepatitis (NASH). (2015) (9)
Neuromotor and cognitive outcomes of early treatment in tyrosine hydroxylase deficiency type B (2017) (9)
Selective screening for inborn errors of metabolism (1994) (9)
Severity-adjusted evaluation of newborn screening on the metabolic disease course in individuals with cytosolic urea cycle disorders. (2020) (8)
Biochemistry of glutaric aciduria type I: Activities of in vitro expressed wild-type and mutant cDNA encoding human glutaryl-CoA dehydrogenase (1999) (8)
Progressive fatal pancytopenia, psychomotor retardation and muscle carnitine deficiency in a child with ethylmalonic aciduria and ethylmalonic acidaemia (1990) (8)
Pediatric in-hospital emergencies: real life experiences, previous training and the need for training among physicians and nurses (2019) (8)
[Communication training using "standardized parents" for paediatricians--structured competence-based training within the scope of continuing medical education]. (2008) (8)
Risk Factors for Childhood Overweight and Obesity in Ukraine and Germany (2019) (8)
Looking forward—An evidence-based approach to glutaryl-CoA dehydrogenase deficiency (2004) (8)
Long-chain polyunsaturated fatty acid status in children, adolescents and adults with phenylketonuria. (2016) (8)
Chronic hyperammonemia causes a hypoglutamatergic and hyperGABAergic metabolic state associated with neurobehavioral abnormalities in zebrafish larvae (2020) (8)
QDPR homologues in Danio rerio regulate melanin synthesis, early gliogenesis, and glutamine homeostasis (2019) (8)
Plasma concentrations of phenyllactic acid in phenylketonuria (1990) (8)
Recurrent Stroke-Like Episodes in FBXL4-Associated Early-Onset Mitochondrial Encephalomyopathy. (2015) (8)
Lower plasma cholesterol, LDL-cholesterol and LDL-lipoprotein subclasses in adult phenylketonuria (PKU) patients compared to healthy controls: results of NMR metabolomics investigation (2020) (7)
Confirmation of the Enzyme Defect in the First Case of β-Ureidopropionase Deficiency (2002) (7)
Transient elastography correlated to four different histological fibrosis scores in children with liver disease (2021) (7)
Abnormal prenatal ultrasound findings in mevalonic aciduria (2008) (7)
Impact of interventional and non‐interventional variables on anthropometric long‐term development in glutaric aciduria type 1: A national prospective multi‐centre study (2020) (7)
CDG (congenital disorders of glycosylation) Zur Differenzialdiagnose hereditärer Ataxien im Erwachsenenalter (2002) (7)
Comprar Inherited Metabolic Diseases · A Clinical Approach | Hoffmann, Georg F. | 9783540747222 | Springer (2010) (7)
Expression and function of matrix Gla protein in human peritoneal mesothelial cells. (2010) (7)
Cross-sectional quantitative analysis of the natural history of TUBA1A and TUBB2B tubulinopathies (2020) (7)
MRI in Smith-Lemli-Opitz syndrome type I. (1997) (7)
Selective screening for inborn errors of metabolism — past, present and future (2005) (7)
Newborn screening—progress and challenges (2010) (7)
Transcriptome profiling of the newborn mouse lung after hypoxia and reoxygenation: hyperoxic reoxygenation affects mTOR signaling pathway, DNA repair, and JNK-pathway regulation (2014) (7)
An Assessment of Publication Status of Pediatric Liver Transplantation Studies (2016) (7)
Endothelial progenitor cells accelerate endothelial regeneration in an in vitro model of Shigatoxin-2a-induced injury via soluble growth factors. (2018) (7)
Screening for asymptomatic β-cell autoimmunity in young children. (2019) (7)
D-2-Hydroxyglutaric aciduria: Evidence of clinical and biochemical heterogeneity (1998) (7)
Generation of an induced pluripotent stem cell (iPSC) line, DHMCi005-A, from a patient with CALFAN syndrome due to mutations in SCYL1. (2019) (7)
NBAS Variants Are Associated with Quantitative and Qualitative NK and B Cell Deficiency (2021) (6)
Maternal Vitamin B12 Deficiency Detected by Newborn Screening—Evaluation of Causes and Characteristics (2022) (6)
Glutaric Aciduria Type I and Related Cerebral Organic Acid Disorders (1995) (6)
PAH gene mutation analysis in clinical practice – comments on mutation analysis anticipates dietary requirements in phenylketonuria (2000) (6)
Qualitative urinary organic acid analysis: 10 years of quality assurance (2016) (6)
Detection of 3-o-methyldopa in dried blood spots for neonatal diagnosis of aromatic l-amino-acid decarboxylase deficiency: the North-eastern Italian experience. (2021) (6)
A Global Cndp1-Knock-Out Selectively Increases Renal Carnosine and Anserine Concentrations in an Age- and Gender-Specific Manner in Mice (2020) (6)
Increased urinary excretion of dicarboxylic acids and 4-hydroxyphenyllactic acid in patients with Zellweger syndrome (1995) (6)
Semi-quantitative detection of a vanillactic acid/vanillylmandelic acid ratio in urine is a reliable diagnostic marker for aromatic L-amino acid decarboxylase deficiency. (2020) (6)
ATAD1 encephalopathy and stiff baby syndrome: a recognizable clinical presentation. (2018) (6)
[Gene therapies for neuromuscular diseases]. (2019) (6)
Semi-quantitative detection of a vanillactic acid/vanillylmandelic acid ratio in urine is a reliable diagnostic marker for aromatic L-amino acid decarboxylase deficiency. (2020) (6)
Identification of Transient Receptor Potential Channel 4-Associated Protein as a Novel Candidate Gene Causing Congenital Primary Hypothyroidism (2020) (6)
Disorders of Neurotransmission (2006) (6)
Publication status of completed registered studies in paediatric appendicitis: a cross-sectional analysis (2018) (6)
Atypical case of Aicardi-Goutières syndrome with late-onset myoclonic status. (2007) (6)
Maternal Vitamin B12 Deficiency Detected by Newborn Screening—Evaluation of Causes and Characteristics (2022) (6)
In vivo monitoring of urea cycle activity with (13)C-acetate as a tracer of ureagenesis. (2016) (5)
Implementing a tracking system for confirmatory diagnostic results after positive newborn screening for cystic fibrosis—implications for process quality and patient care (2020) (5)
Complementing the phenotypical spectrum of TUBA1A tubulinopathy and its role in early-onset epilepsies (2021) (5)
Stable isotopes in inborn errors of metabolism (1997) (5)
Further evidence for de novo variants in SYNCRIP as the cause of a neurodevelopmental disorder (2021) (5)
Implementing a tracking system for confirmatory diagnostic results after positive newborn screening for cystic fibrosis—implications for process quality and patient care (2020) (5)
Differential diagnosis of disorders of biogenic amines metabolism. (1998) (5)
Increased carbohydrate-deficient transferrin concentration and abnormal protein glycosylation of unknown etiology in a patient with achondroplasia. (2000) (5)
Bile acid metabolism in three patients with mevalonic aciduria due to mevalonate kinase deficiency. (1993) (5)
The Interdisciplinary Diagnosis of Rare Diseases-Results of the Translate-NAMSE Project. (2022) (5)
Long COVID symptoms in exposed and infected children, adolescents and their parents one year after SARS-CoV-2 infection: A prospective observational cohort study (2022) (5)
Final results of the southwest German pilot study on cystic fibrosis newborn screening - Evaluation of an IRT/PAP protocol with IRT-dependent safety net: Results of the Southwest German CFNBS pilot study. (2021) (5)
An Integrated clinical pathway for diagnosis, treatment and care of rare diseases: model, operating procedures, and results of the project TRANSLATE-NAMSE funded by the German Federal Joint Committee (2021) (5)
The biochemical subtype is a predictor for cognitive function in glutaric aciduria type 1: a national prospective follow-up study (2021) (5)
Correction to: Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies (2020) (5)
In vivo High-Content Screening in Zebrafish for Developmental Nephrotoxicity of Approved Drugs (2020) (4)
[CDG (congenital disorders of glycosylation). Differential hereditary ataxia in adulthood diagnosis]. (2002) (4)
Congenital glutamine deficiency with glutamine synthetase mutations. (2006) (4)
Disorders of Lysine Catabolism and Related Cerebral Organic-Acid Disorders (2000) (4)
A novel mutation (c.64_65delGGinsAACC [p.G21fsX66]) in the GTP cyclohydrolase 1 gene that causes Segawa disease (2008) (4)
Aspartylglucosaminuria (2014) (4)
[Selective screening for amino and organic acid inborn errors]. (1992) (4)
Long-term effects of medical management on growth and weight in individuals with urea cycle disorders (2020) (4)
Cross-sectional analysis on publication status and age representation of clinical studies addressing mechanical ventilation and ventilator-induced lung injury in infants and children (2018) (4)
More on: neopterin induces the proatherothrombotic phenotype in human coronary endothelial cells (2007) (4)
Waning Immunity 14 Months After SARS-Cov-2 Infection. (2022) (4)
Compound heterozygous SPATA 5 variants in four families and functional studies of SPATA 5 de fi ciency (2019) (4)
Monoamine metabolism study in severe, early-onset epilepsy in childhood. (2008) (4)
1H-NMR-based metabolic profiling identifies non-invasive diagnostic and predictive urinary fingerprints in 5q spinal muscular atrophy (2021) (3)
Prospective Newborn Screening for SCID in Germany: A First Analysis by the Pediatric Immunology Working Group (API) (2023) (3)
Targeted Metabolomic Profiling of Total Fatty Acids in Human Plasma by Liquid Chromatography-Tandem Mass Spectrometry (2020) (3)
Corrigendum: Quantitative clinical characteristics of 53 patients with MPS VII: a cross-sectional analysis (2017) (3)
Next-generation sequencing diagnostics of bacteremia in pediatric sepsis (2021) (3)
[Enzyme defects of the urea cycle in differential acute encephalopathy diagnosis in adulthood. Diagnosis and current therapy concepts]. (1999) (3)
Neurometabolic Hereditary Diseases of Adults. (2019) (3)
Sudden neonatal death in individuals with medium-chain acyl-coenzyme A dehydrogenase deficiency: limit of newborn screening (2022) (3)
Executive Report to the European Commission on newborn screening in the European Union (2011) (3)
Dědičné metabolické poruchy (2006) (3)
A Novel UPLC-MS/MS Method Identifies Organ-Specific Dipeptide Profiles (2021) (3)
Axenfeld-Rieger Anomaly and Neuropsychiatric Problems—More than Meets the Eye (2020) (3)
The pattern of neural tube defects in a highly endogamous society: A 25-year incidence trends (2012) (3)
Novel treatments for rare rheumatologic disorders: analysis of the impact of 30 years of the US orphan drug act (2016) (3)
Screening for defects of branched-chain amino acid metabolism (2005) (3)
1319 DETECTION OF HEPATIC HIGHLY CARCINOGENIC, EXOCYCLIC ETHENO-DNA-ADDUCTS IN PATIENTS WITH ALCOHOLIC AND AND NON-ALCOHOLIC FATTY LIVER DISEASE AND IN CHILDREN WITH NON-ALCOHOLIC STEATOHEOPATITIS (2012) (3)
2-Methyl-3hydroxybutyryl-CoA dehydrogenase deficiency, a new disorder of isoleucine and branced-chain fatty acid degradation: studies on teh forward and reverse reactions (2001) (3)
Genomic newborn screening: Proposal of a two‐stage approach (2021) (2)
Efficacy, Tolerability, and Retention of Antiseizure Medications in PRRT2-Associated Infantile Epilepsy (2022) (2)
Maternal vitamin deficiency mimicking multiple acyl-CoA dehydrogenase deficiency on newborn screening (2021) (2)
Primary carnitine deficiency – diagnosis after heart transplantation: better late than never! (2020) (2)
Recommendations for diagnosing and managing individuals with glutaric aciduria type 1: third revision. (2022) (2)
Other Metabolic Disorders (2006) (2)
Feasibility study and control values of transient elastography in healthy children (2012) (2)
Optimized Trientine-dihydrochloride Therapy in Pediatric Patients With Wilson Disease: Is Weight-based Dosing Justified? (2020) (2)
[Newborn screening program for spinal muscular atrophy]. (2021) (2)
Corrigendum to "Aromatic amino acid decarboxylase deficiency: Molecular and metabolic basis and therapeutic outlook" [Mol Genet Metab. 2019 May;127(1):12-22]. (2021) (2)
Quantitative retrospective natural history modeling of WDR45-related developmental and epileptic encephalopathy – a systematic cross-sectional analysis of 160 published cases (2021) (2)
“STIFF-BABY-LIKE” SYNDROME WITH SEVERELY DIMINISHED GABA IN CSF - A DEFECT OF GLUTAMIC ACID DECARBOXYLASE? (1994) (2)
Integrative Approach to Predict Severity in Nonketotic Hyperglycinemia (2022) (2)
Confirmation of the enzyme defect in the first case of beta-ureidopropionase deficiency. Beta-alanine deficiency. (2000) (2)
Focus on neonatal screening (2007) (2)
A need-adapted transition program after pediatric kidney transplantation (2019) (2)
Detection of early cardiac disease manifestation in propionic acidemia - Results of a monocentric cross-sectional study. (2022) (2)
[Pre- and postnatal diagnosis of organoacidopathies]. (1990) (2)
Novel orphan medicines and abandoned pathways - the US Orphan Drug Act of 1983 and the impact on rare rheumatologic diseases and lysosomal storage disorders (2015) (2)
Pediatric communication training: A project report on an innovative approach and its effects on student acceptance. (2018) (2)
Assessment of intellectual impairment, health‐related quality of life, and behavioral phenotype in patients with neurotransmitter related disorders: Data from the iNTD registry (2021) (2)
High blood pressure, a red flag for the neonatal manifestation of urea cycle disorders (2019) (2)
Aromatic L-amino acid decarboxylase deficiency: Clinical picture, laboratory finding and medical treatment (2008) (2)
Identification of potential interferents of methylmalonic acid: a previously unrecognized pitfall in clinical diagnostics and newborn screening. (2022) (2)
Coma in Neonates after Nasal Decongestant Drops (2006) (2)
Cycle sequencing of polymerase chain reaction-amplified genomic DNA with dye-labeled universal primers. (2001) (2)
Bile Acid Precursors Compete with very Long Chain Fatty Acids for Translocation into Peroxisomes (2013) (1)
Emergency Treatment of Inherited Metabolic Diseases (2017) (1)
β-Ureidopropionase deficiency due to novel and rare UPB1 mutations affecting pre-mRNA splicing and protein structural integrity and catalytic activity. (2022) (1)
Workup of the Patient with Lactic Acidemia: Mitochondrial Disease (2017) (1)
Unlocking the Treatment for PKU Brewin Books. Green, Anne Sheila. 2020. 172 pp. £12.95 ( ISBN : 978‐1‐85 858‐714‐1) (2020) (1)
Generation of an iPSC line from a patient with infantile liver failure syndrome 2 due to mutations in NBAS: DHMCi004-A. (2019) (1)
Detection of highly carcinogenic, exocyclic etheno-DNA-adducts in the liver of children with non-alcoholic fatty liver disease (2012) (1)
International Congress on Prevention of Congenital Diseases (2011) (1)
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Emergency Management of Metabolic Diseases (2006) (1)
Pediatric use of tetracyclines: focus on neurodevelopmental effects (2017) (1)
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Genotypic and phenotypic spectrum of cytosolic phosphoenolpyruvate carboxykinase deficiency. (2022) (1)
Workup of the Patient with Metabolic Acidosis and Massive Ketosis (2017) (1)
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Development of Neuropsychological Functions in Patients with Glutaric Aciduria Type I (2014) (1)
Glutaryl‐CoA Dehydrogenase (2002) (1)
Differences of Phenylalanine Concentrations in Dried Blood Spots and in Plasma: Erythrocytes as a Neglected Component for This Observation (2021) (1)
Predicting the disease severity in male individuals with ornithine transcarbamylase deficiency (2022) (1)
Effects on self- and external assessment of communicative competence - a control group-design study (2007) (1)
Metabolic decompensation in methylmalonic aciduria (2012) (1)
Ethylmalonic encephalopathy and SCAD deficiency (2017) (0)
Branched chain keto acid dehydrogenase kinase (BCKDK) deficiency (2020) (0)
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Efficiacy and Safety of Partial Use of a Formula Diet in Extreme Obese Adolescents (2011) (0)
P 1162. Somatic Mosaics in Epileptogenic Tissue—Background and Therapeutic Implications of Molecular Changes in Structural Epilepsies (2018) (0)
FV 754. Newborn Screening, a Disease-Modifying Intervention for Glutaric Aciduria Type 1 (2018) (0)
Introduction to the disorders of purine and pyrimidine metabolism (2020) (0)
The extended nationwide newborn screening program in the state of Qatar (in cooperation with the Neonatal Screening Centre in University Children Hospital Heidelberg-Germany) — 10 year outcome (2014) (0)
MODIFIED PIGGYBACK TECHNIQUE OF LIVER TRANSPLANTATION IN CHILDREN: 2539 (2010) (0)
Mutation analysis in metabolic disease – change in clinical practice? (2000) (0)
Spinal Muscular Atrophy: The High Costs of Innovative Therapies for Rare Diseases (2021) (0)
Variability of OTC deficiency in heterozygous carriers: Case report of a family (2014) (0)
Publisher Correction: The biochemical subtype is a predictor for cognitive function in glutaric aciduria type 1: a national prospective follow-up study (2021) (0)
INV27 Neurotransmitter disorders (2007) (0)
Evaluation of Water Removal and Memory Effect in 13CO2 Breath Tests by Isotope Ratio Mass Spectrometry (1994) (0)
Prevention of Disease in Glutaryl-CoA Dehydrogenase Deficiency (GDD) 859 (1996) (0)
Approach to the Child Suspected of Having a Disorder of Fatty Acid Oxidation (2017) (0)
8 HUMAN NEUTROPHIL ELASTASE AND a -PROTEINASE IMBALANCE IN PULMONARY EFFLUENTS IN INFANTS RESCUED WITH HIGH FREQUENCY OSCILLATORY VENTILATION (1986) (0)
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2 Disorders of Neurotransmission (2005) (0)
3-MethylcrotonylCoA carboxylase deficiency/3-methylcrotonylglycinuria (2020) (0)
887 FIRST SERIES OF LIVER CELL TRANSPLANTATION FOR THE TREATMENT OF SEVERE NEONATAL UREA CYCLE DISORDERS (2008) (0)
Urea Cycle Disorders in the US and Europe – Evidence-based Clinical Outcomes Derived from Two Decades of Experience with Prospective Registry Studies (2019) (0)
Cell and Organ Transplantation for Inborn Errors of Metabolism (2014) (0)
Communication with standardised parents in paediatrics Relevance of cases , authenticity and quality of feedback • (2007) (0)
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95 EVALUATION OF PLASMA PHENYLLACTATE IN PHENYLKETONURIA (1994) (0)
Special Issue: Newborn screening. (2010) (0)
The methylmalonic malonic aciduria of deficiency of AcylCoA synthetase (ACSF3) (2020) (0)
Work-Up of the Patient with Acute Neurological or Psychiatric Manifestations (2017) (0)
German newborn screening for Cystic fibrosis: Parental perspectives and suggestions for improvements (2022) (0)
Molecular-Genetic and Cytogenetic Diagnostics (2012) (0)
Medical Teacher in Ten Minutes (2017) (0)
Generation of an induced pluripotent stem cell line (DHMCi009-A) from an individual with TUBB2A tubulinopathy. (2022) (0)
Pediatric in-hospital emergencies (2019) (0)
Analysis of the functional muscle–bone unit of the forearm in juvenile patients with phenylketonuria (PKU) by peripheral quantitative computed tomography (2009) (0)
Time-to-final response [days] of two study submissions to 34 IRBs by IRB type (university or state medical board, p = NS). (2015) (0)
Epidemiology, molecular genetics, and new treatment options for aromatic amino acid decarboxylase deficiency (2019) (0)
Tetrahydrobiopterin deficiencies: an international survey of clinical and biochemical features, treatment strategies and follow-up of 626 patients (2013) (0)
Evaluation of Different Curricular Integration Scenarios of Virtual Patients: First Results Using the eViP Evaluation Instruments (2010) (0)
Citrullinemia type I (2020) (0)
Erratum to: Diagnosis of tetrahydrobiopterin deficiency using filter paper blood spots: further development of the method and 5 years experience (2011) (0)
Machine Learning Methods Improve Specificity in Newborn Screening for Isovaleric Aciduria (2023) (0)
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IMPAIRED SYNTHESIS OF CYSTEINYL LEUKOTRIENES IN GLUTATHIONE SYNTHETASE DEFICIENCY (1994) (0)
Clinical characterization of patients with early infantile onset of autosomal recessive GTP cyclohydrolase I deficiency without hyperphenylalaninemia (2011) (0)
Ten Years after the International Committee of Medical Journal Editors’ Clinical Trial Registration Initiative, One Quarter of Phase 3 Pediatric Epilepsy Clinical Trials Still Remain Unpublished: A Cross-Sectional Analysis (2016) (0)
Pharmacologic Rescue of Hyperammonemia-induced Neurotoxicity by Inhibition of Ornithine Aminotransferase in a Zebrafish Model of Acute Hyperammonemic Encephalopathy (2019) (0)
Erratum to: Phenylalanine loading in pediatric patients with dopa-responsive dystonia: revised test protocol and pediatric cutoff values (2010) (0)
Protein-dependent inborn errors of metabolism (2010) (0)
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Leukoencephalopathy with ataxia, hypodontia and elevation of myo-inositol: a new entity? (2004) (0)
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Kommunikationsschulung mittels "Standardisierter Eltern" im Fachbereich der Pädiatrie [Communication training using "standardised parents" in paediatrics] (2007) (0)
An Integrative Approach to Predict Phenotypic Severity in Nonketotic Hyperglycinemia (2021) (0)
A high-throughput newborn screening approach for SCID, SMA, and SCD combining multiplex qPCR and tandem mass spectrometry (2023) (0)
[Phenylketonuria and hyperphenylalaninemia]. (1993) (0)
Central seratonin turnover in children with generalised non-DOPA responsive dystonia (2002) (0)
Giving them a good start: informatics support of newborn screening and clinical care (2005) (0)
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Bi-allelic mutations in DNAJC12 cause hyperphenylalaninemia, neurotransmitter deficiencies, dystonia and intellectual disability (2017) (0)
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Enterovirus-Associated Brain Stem Encephalitis Mistaken for Epilepsia Partialis Continua (2016) (0)
Inherited Metabolic Diseases in the Context of Rare/Orphan Diseases (2017) (0)
aRgus: Multilevel visualization of non-synonymous single nucleotide variants & advanced pathogenicity score modeling for genetic vulnerability assessment (2022) (0)
Vici sy Nature Cullup et al. (Supplemental Information) (2013) (0)
The 34th Annual Symposium of the SSIEM - Cardiff 1996 (1997) (0)
The 35th Annual Symposium of the SSIEM – Göteborg 1997 (1998) (0)
Waist Circumference to Body Height is a Suitable Measure of Cardiovascular Risk in Overweight and Obese Children (2015) (0)
19 Nephrogene Enzephalopathie (2004) (0)
New Variant of Purine Nucleoside Phosphorylase Deficiency with Predominant Neurological Phenotype (2016) (0)
D-2-hydroxyglutaric (DL-2-hydroxyglutaric) aciduria (2020) (0)
The Ongoing Need for Innovation in Transplant Medicine and Surgery (2005) (0)
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Everolimus as Targeted mTOR Inhibition in Neonates and Infants with Tuberous Sclerosis (2016) (0)
The 3rd International Workshop on glutaryl-CoA delhydrogenase deficiency. (2004) (0)
Generation of an induced pluripotent stem cell line (DHMCi008-A) from an individual with TUBA1A tubulinopathy. (2022) (0)
[Hyperthyroidism in early childhood and a very rare variant of glutaric aciduria: coincidence or causal relation?]. (2001) (0)
FV 697. Biallelic Mutations in SCYL1 Cause CALFAN-Syndrome (Cholestasis, Acute Liver Failure, and Neurodegeneration), A Congenital Disorder of Intracellular Trafficking with a Variable Neurological Phenotype (2018) (0)
Myotonic dystrophy associated with VACTERL? A case report. (2001) (0)
Individual Health Trial with Ruxolitinib in Aicardi-Goutières Syndrome Type II (2019) (0)
Cobalamin C, D, F, G diseases; methylmalonic aciduria and variable homocystinuria (2020) (0)
Patient Care and Treatment (2010) (0)
Multiple epiphyseal dysplasia as differenzial diagnosis in patients with L-Dopa responsive dystonia (2008) (0)
From newborn screening to genomic medicine: challenges and suggestions on how to incorporate genomic newborn screening in public health programs (2022) (0)
Bohring-Opitz Syndrome: Mutation in the ASXL1 Gene as a Rare Cause of Mental Retardation with Failure to Thrive and Characteristic Phenotype (2015) (0)
Safety and Efficacy of mTOR Inhibitor Treatment in Patients with Tuberous Sclerosis Complex under 2 Years of Age (2019) (0)
Late diagnosis of pyridoxal- phosphate depending epilepsy: Case report of a 5 year old boy (2006) (0)
Deep intronic variant in MVK as a cause for mevalonic aciduria initially presenting as non‐syndromic retinitis pigmentosa (2022) (0)
Diagnostic Pitfalls in Tuberculous Meningitis (2015) (0)
Short-chain 3-hydroxyacylCoA dehydrogenase (SCHAD) deficiency (2020) (0)
Abnormalities of tetrahydrobiopterin metabolism (2018) (0)
Das therapeutische Repertoir bei Schlafstörungen im Kindesalter: I. Allgemeine Grundsätze und medikamentöse Therapie Therapy of sleep disturbances in childhood and adolescence: I. Principles and pharmacologic therapy (2008) (0)
Cystic Fibrosis (CF) Newborn Screening (NBS) – Comparison of an IRT-PAP with an IRT-DNA based protocol in a German population (2009) (0)
Neurological Multicenter Clinical Research in Vulnerable Populations: Variability in Institutional Review Boards' Responses (2015) (0)
Dopamine transporter defect: Infantile parkinsonism-dystonia with elevated dopamine metabolites in cerebrospinal fluid is genetically resolved (2010) (0)
Michael B. Ranke (Ed.): Diagnostics of Endocrine Function in Children and Andolescents (2009) (0)
In Search for New Monogenic Diabetes Genes: PCBD1 (2014) (0)
Combining IRT/PAP+SN with DNA analysis for the best CF newborn screening strategy for Germany (2015) (0)
AB1029 FIBRODYSPLASIA OSSIFICANS PROGRESSIVA: A CHALLENGE TO DIAGNOSE AND TO TREAT (2019) (0)
Introduction to the organic acidemias (2020) (0)
Carnosine metabolism in diabetes is altered by reactive metabolites (2015) (0)
Genetically Misdiagnosed Duchenne: Confirmation of a Becker Muscle Dystrophy with Proof of an In-Frame Mutation with Deletion of Three Additional Exons on mRNA Level Based on Experimental cDNA Analysis (2015) (0)
The 37th Annual Symposium of the SSIEM, Genova, 7-10 September 1999: Preface (2000) (0)
Role of Homocysteine Measurement for Early Diagnosis of Vitamin B12 Deficiency in the First Days of Life (2011) (0)
[Erich von Baeyer: the turbulent life of an outstanding German-American radiologist]. (2012) (0)
Loss of TNR causes a nonprogressive neurodevelopmental disorder with spasticity and transient opisthotonus (2020) (0)
3-Hydroxy-3-methylglutarylCoA lyase deficiency (2020) (0)
Juvenile Scleroderma with Isolated CNS Manifestations: Difficulties in Diagnosis and Possible Treatment Plans (2015) (0)
A high-throughput newborn screening approach for SCID, SMA, and SCD combining multiplex qPCR and tandem mass spectrometry (2023) (0)
Emerging role of autophagy in pediatric neurodegenerative and neurometabolic diseases (2014) (0)
Identification of TRPC4AP as a Novel Candidate Gene Causing Thyroid Dysgenesis (2019) (0)
GTPCH enzyme activity in patients with suspected dopa-responsive dystonia (2006) (0)
Abstracts of the 52nd Workshop for Pediatric Research (2017) (0)
125 GENETIC COMPLEMENTATION ANALYSIS OF MEVALONATE KINASE DEFICIENCY IN CULTURED FIBROBLASTS (1991) (0)
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MRI in Smith-Lemli-Opitz syndrome type 1 (1997) (0)
Pediatric in-hospital emergencies: real life experiences, previous training and the need for training among physicians and nurses (2019) (0)
Urinary excretion of Krebs cycle metabolites in a 13-year-old girl (1999) (0)
Neurotransmitter Defects and Related Disorders (2010) (0)
[Infant vomiting--differential diagnosis and management]. (2004) (0)
NeuroMetabolom – A Project to Optimize the Diagnosis in Rare Neurometabolic Diseases (2019) (0)
German newborn screening for Cystic fibrosis: Parental perspectives and suggestions for improvements (2022) (0)
[Glutaric acidemia/glutaric aciduria I as differential chorea minor diagnosis]. (1993) (0)
Post-translational control of carnosinase activitiy in diabetes (2015) (0)
Compound heterozygous SPATA5 variants in four families and functional studies of SPATA5 deficiency (2018) (0)
The Biochemical High Excreter Phenotype Is the Major Risk Factor for Cognitive Impairment in Early Diagnosed Individuals with Glutaric Aciduria Type 1 (2021) (0)
Long-term follow-up and outcome of patients with tetrahydrobiopterin deficiency (2008) (0)
In Memoriam. Univ.-Prof. Dr. Med. Dr. H. C. Horst Bickel, PhD, FRCP. 28 June 1918--1 December 2000. (2001) (0)
48th Workshop of Pediatric Research Hamburg September 12 – 13, 2012 (2012) (0)
Pediatric use of tetracyclines (2017) (0)
Natural History of Molybdenum Cofactor Deficiency (2014) (0)
152 INCREASED URINARY EXCRETION OF DICARBOXYLIC ACIDS AND 4 HYDROXYPHENYLLACTIC ACID IN PATIENTS WITH ZELLWEGER SYNDROME (1994) (0)
Comprar Pediatric Endocrinology and Inborn Errors of Metabolism | Kyriakie Sarafoglou | 9780071439152 | Mcgraw-Hill Education (2009) (0)
The Economic Impact of Innovative Therapies for Rare Diseases on Healthcare Providers and the Healthcare System in Germany – The Example of Spinal Muscular Atrophy (2020) (0)

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