Ertan Mayatepek
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Engineering Biology
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(Suggest an Edit or Addition)Ertan Mayatepek's Published Works
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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)
- Mitochondrial complex I deficiency: from organelle dysfunction to clinical disease. (2008) (292)
- Large neutral amino acids block phenylalanine transport into brain tissue in patients with phenylketonuria. (1999) (265)
- Clinical and biochemical phenotype in 11 patients with mevalonic aciduria. (1993) (247)
- Physical exercise-induced hypoglycemia caused by failed silencing of monocarboxylate transporter 1 in pancreatic beta cells. (2007) (203)
- Long-term follow-up of 114 patients with congenital hyperinsulinism. (2003) (186)
- A guide to diagnosis and treatment of Leigh syndrome (2013) (184)
- Treatment recommendations in long-chain fatty acid oxidation defects: consensus from a workshop (2009) (183)
- Creatine deficiency syndrome caused by guanidinoacetate methyltransferase deficiency: diagnostic tools for a new inborn error of metabolism. (1997) (176)
- Neurodegeneration in Methylmalonic Aciduria Involves Inhibition of Complex II and the Tricarboxylic Acid Cycle, and Synergistically Acting Excitotoxicity* (2002) (151)
- Dialysis in neonates with inborn errors of metabolism. (1999) (151)
- Improving treatment of guanidinoacetate methyltransferase deficiency: reduction of guanidinoacetic acid in body fluids by arginine restriction and ornithine supplementation. (2001) (149)
- Management and outcome in 75 individuals with long-chain fatty acid oxidation defects: results from a workshop (2009) (140)
- Clinical, biochemical and molecular genetic characteristics of 19 patients with the Sjögren-Larsson syndrome. (2001) (134)
- Physical exercise-induced hyperinsulinemic hypoglycemia is an autosomal-dominant trait characterized by abnormal pyruvate-induced insulin release. (2003) (133)
- Conjugated Bilirubin Triggers Anemia by Inducing Erythrocyte Death (2014) (132)
- TGR5 is essential for bile acid-dependent cholangiocyte proliferation in vivo and in vitro (2015) (128)
- Characterization of pancreatic NMDA receptors as possible drug targets for diabetes treatment (2015) (121)
- NMDA receptor activation and respiratory chain complex V inhibition contribute to neurodegeneration in d‐2‐hydroxyglutaric aciduria (2002) (120)
- Mild trimethylaminuria caused by common variants in FM03 gene (1999) (118)
- Lack of creatine in muscle and brain in an adult with GAMT deficiency (2003) (113)
- 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)
- Biallelic Mutations in DNAJC12 Cause Hyperphenylalaninemia, Dystonia, and Intellectual Disability. (2017) (103)
- Presymptomatic treatment of neonatal guanidinoacetate methyltransferase deficiency (2006) (99)
- Leukotrienes: Biosynthesis, Metabolism, and Pathophysiologic Significance (1995) (98)
- Deficiency of the first mannosylation step in the N-glycosylation pathway causes congenital disorder of glycosylation type Ik. (2004) (88)
- Life cell quantification of mitochondrial membrane potential at the single organelle level (2008) (84)
- Mutation and polymorphism analysis of the human homogentisate 1, 2-dioxygenase gene in alkaptonuria patients. (1998) (81)
- Human thioredoxin 2 deficiency impairs mitochondrial redox homeostasis and causes early-onset neurodegeneration. (2016) (80)
- Mevalonate kinase deficiency: enlarging the clinical and biochemical spectrum. (2003) (79)
- Decreased Expression of miR-21, miR-26a, miR-29a, and miR-142-3p in CD4+ T Cells and Peripheral Blood from Tuberculosis Patients (2013) (77)
- Septo‐optic dysplasia associated with a new mitochondrial cytochrome b mutation (2002) (77)
- Methylmalonic Acid, a Biochemical Hallmark of Methylmalonic Acidurias but No Inhibitor of Mitochondrial Respiratory Chain* (2003) (77)
- Mutations in COA6 cause Cytochrome c Oxidase Deficiency and Neonatal Hypertrophic Cardiomyopathy (2015) (76)
- Neurological findings in Hunter disease: Pathology and possible therapeutic effects reviewed (2008) (76)
- Long-term clinical outcome in patients with glutathione synthetase deficiency. (2001) (76)
- The antioxidant Trolox restores mitochondrial membrane potential and Ca2+-stimulated ATP production in human complex I deficiency (2009) (75)
- Neurocognitive outcome in patients with hypertyrosinemia type I after long-term treatment with NTBC (2012) (75)
- Long-term medical treatment in congenital hyperinsulinism: a descriptive analysis in a large cohort of patients from different clinical centers (2015) (73)
- Pseudotumor cerebri as an important differential diagnosis of papilledema in children (2006) (72)
- Impaired degradation of leukotrienes in patients with peroxisome deficiency disorders. (1992) (70)
- Propionic Acidemia Revisited: A Workshop Report (2004) (70)
- beta-Ureidopropionase deficiency: an inborn error of pyrimidine degradation associated with neurological abnormalities. (2004) (69)
- Tetrahydrobiopterin responsiveness in phenylketonuria differs between patients with the same genotype. (2001) (67)
- 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)
- Postnatal Changes in Neonatal Acylcarnitine Profile (2001) (67)
- Frequencies of inherited organic acidurias and disorders of mitochondrial fatty acid transport and oxidation in Germany (2004) (66)
- NAXE Mutations Disrupt the Cellular NAD(P)HX Repair System and Cause a Lethal Neurometabolic Disorder of Early Childhood (2016) (65)
- Treatment of ataxia in isolated vitamin E deficiency caused by alpha-tocopherol transfer protein deficiency. (1999) (64)
- Influence of n-6 and n-3 polyunsaturated fatty acids on the resistance to experimental tuberculosis. (1997) (64)
- Diagnosis of Mitochondrial Trifunctional Protein Deficiency in a Blood Spot from the Newborn Screening Card by Tandem Mass Spectrometry and DNA Analysis (1999) (63)
- The clinical manifestation of the kwashiorkor syndrome is related to increased lipid peroxidation. (1998) (62)
- Continuous mannose infusion in carbohydrate‐deficient glycoprotein syndrome type I (1997) (62)
- Molecular and functional characterisation of mild MCAD deficiency (2001) (61)
- C. elegans ATAD-3 Is Essential for Mitochondrial Activity and Development (2009) (61)
- Changes in blood carnitine and acylcarnitine profiles of very long‐chain acyl‐CoA dehydrogenase‐deficient mice subjected to stress (2004) (60)
- Potentiation of 3‐hydroxyglutarate neurotoxicity following induction of astrocytic iNOS in neonatal rat hippocampal cultures (2001) (60)
- Carnitine Supplementation Induces Acylcarnitine Production in Tissues of Very Long-Chain Acyl-CoA Dehydrogenase-Deficient Mice, Without Replenishing Low Free Carnitine (2008) (59)
- Pitfalls of neonatal screening for very-long-chain acyl-CoA dehydrogenase deficiency using tandem mass spectrometry. (2006) (57)
- Chronic treatment with glutaric acid induces partial tolerance to excitotoxicity in neuronal cultures from chick embryo telencephalons (2002) (57)
- Neonatal Screening for Very Long-Chain Acyl-CoA Dehydrogenase Deficiency: Enzymatic and Molecular Evaluation of Neonates With Elevated C14:1-Carnitine Levels (2006) (56)
- Cerebral Energy Metabolism in Phenylketonuria: Findings by Quantitative In Vivo 31P MR Spectroscopy (2003) (56)
- Novel missense mutations outside the allosteric domain of glutamate dehydrogenase are prevalent in European patients with the congenital hyperinsulinism-hyperammonemia syndrome (2000) (55)
- Two novel missense mutations of the OCTN2 gene (W283R and V446F) in a patient with primary systemic carnitine deficiency (2000) (55)
- Sensitivity of electrospray-tandem mass spectrometry using the phenylalanine/tyrosine-ratio for differential diagnosis of hyperphenylalaninemia in neonates. (1999) (55)
- Clinical spectrum of the pseudotumor cerebri complex in children (2010) (55)
- Silent and symptomatic primary carnitine deficiency within the same family due toidentical mutations in the organic cation/carnitine transporter OCTN2 (2003) (55)
- Palivizumab-resistant human respiratory syncytial virus infection in infancy. (2010) (54)
- Ca(2+) and Na(+) dependence of 3-hydroxyglutarate-induced excitotoxicity in primary neuronal cultures from chick embryo telencephalons. (2002) (54)
- Exercise induced hypoglycaemic hyperinsulinism (2001) (54)
- Newborn screening for hepatorenal tyrosinemia: Tandem mass spectrometric quantification of succinylacetone. (2006) (53)
- Congenital hyperinsulinism: Molecular basis of a heterogeneous disease (1999) (52)
- Expanding the phenotype of the Proteus syndrome: a severely affected patient with new findings. (1989) (51)
- Defective metabolism of Leukotriene B4 in the Sjögren–Larsson Syndrome (2001) (51)
- Increase of CSF tyrosine and impaired serotonin turnover in tyrosinemia type I. (2011) (51)
- Fabry disease-often seen, rarely diagnosed. (2009) (51)
- Specific and rapid quantification of 8-iso-prostaglandin F2alpha in urine of healthy humans and patients with Zellweger syndrome by gas chromatography-tandem mass spectrometry. (1998) (50)
- Persistent hyperinsulinaemic hypoglycaemia of infancy: therapy, clinical outcome and mutational analysis (1997) (50)
- Mannose supplementation in carbohydrate-deficient glycoprotein syndrome type I and phosphomannomutase deficiency (1998) (50)
- Pseudotumor Cerebri in Childhood and Adolescence – Results of a Germany-wide ESPED-survey (2013) (49)
- Fanconi Syndrome Caused by Antiepileptic Therapy with Valproic Acid (2004) (49)
- Neuromyelitis optica and pregnancy during therapeutic B cell depletion: infant exposure to anti-AQP4 antibody and prevention of rebound relapses with low-dose rituximab postpartum (2013) (48)
- MRPL44 mutations cause a slowly progressive multisystem disease with childhood-onset hypertrophic cardiomyopathy (2015) (47)
- The ‘Effects of Transfusion Thresholds on Neurocognitive Outcome of Extremely Low Birth-Weight Infants (ETTNO)’ Study: Background, Aims, and Study Protocol (2012) (47)
- Leukotrienes in the pathophysiology of kwashiorkor (1993) (47)
- Tissue Carnitine Homeostasis in Very-Long-Chain Acyl-CoA Dehydrogenase–Deficient Mice (2005) (46)
- Late-onset group B streptococcal meningitis has cerebrovascular complications. (2015) (46)
- Molecular genetics of type 1 glycogen storage disease. (2001) (46)
- Public, expert and patients' opinions on preimplantation genetic diagnosis (PGD) in Germany. (2005) (46)
- Transient trimethylaminuria in childhood (1998) (45)
- Intrastriatal administration of 3-hydroxyglutaric acid induces convulsions and striatal lesions in rats (2001) (45)
- Therapeutic trial of arginine restriction in creatine deficiency syndrome (1998) (44)
- Hyperargininemia due to arginase I deficiency: the original patients and their natural history, and a review of the literature (2015) (43)
- 5-Oxoprolinuria in patients with and without defects in the -glutamyl cycle (1999) (43)
- Incidence and short-term outcome of children with symptomatic presentation of organic acid and fatty acid oxidation disorders in Germany. (2002) (43)
- Leukotriene C4-synthesis deficiency: a new inborn error of metabolism linked to a fatal developmental syndrome (1998) (42)
- Osmotic regulation of betaine homocysteine-S-methyltransferase expression in H4IIE rat hepatoma cells. (2007) (42)
- Identification of the peroxisomal beta-oxidation enzymes involved in the degradation of leukotrienes. (2002) (42)
- Estrogen Receptor Alpha Expression in Podocytes Mediates Protection against Apoptosis In-Vitro and In-Vivo (2011) (42)
- Acylcarnitine Profiles of Preterm Infants Over the First Four Weeks of Life (2002) (42)
- Impaired Synthesis of Lipoxygenase Products in Glutathione Synthetase Deficiency (1994) (41)
- Genetic basis of mitochondrial HMG-CoA synthase deficiency (2001) (41)
- Clinical and genetic heterogeneity in congenital hyperinsulinism (2001) (41)
- Osmotic regulation of hepatic betaine metabolism. (2013) (41)
- Congenital central hypoventilation syndrome with hyperinsulinism in a preterm infant (2008) (39)
- Fatal neonatal encephalopathy and lactic acidosis caused by a homozygous loss-of-function variant in COQ9 (2015) (39)
- Defective metabolic programming impairs early neuronal morphogenesis in neural cultures and an organoid model of Leigh syndrome (2021) (39)
- White matter disease in cerebral organic acid disorders: clinical implications and suggested pathomechanisms. (2002) (38)
- Mudd’s disease (MAT I/III deficiency): a survey of data for MAT1A homozygotes and compound heterozygotes (2015) (38)
- Coenzyme Q10 in plasma and erythrocytes: comparison of antioxidant levels in healthy probands after oral supplementation and in patients suffering from sickle cell anemia. (2002) (38)
- Glucose and leucine kinetics in idiopathic ketotic hypoglycaemia (2006) (38)
- Bile Acid-Induced Suicidal Erythrocyte Death (2016) (38)
- Defective inactivation of leukotriene B4 in patients with Sjögren-Larsson syndrome. (2000) (38)
- Effects of ascorbic acid and low-protein diet in alkaptonuria (1998) (37)
- A Novel Tandem Mass Spectrometry Method for Rapid Confirmation of Medium- and Very Long-Chain acyl-CoA Dehydrogenase Deficiency in Newborns (2009) (37)
- Tetrahydrobiopterin sensitivity in German patients with mild phenylalanine hydroxylase deficiency (2003) (37)
- Infantile Leigh-like syndrome caused by SLC19A3 mutations is a treatable disease. (2014) (36)
- A decreasing rate of neural tube defects following the recommendations for periconceptional folic acid supplementation (2005) (36)
- 5-Lipoxygenase inhibition: a new treatment strategy for Sjögren-Larsson syndrome. (2000) (36)
- Acceptability of Multiple Uncoated Minitablets in Infants and Toddlers: A Randomized Controlled Trial (2018) (36)
- MRPS22 mutation causes fatal neonatal lactic acidosis with brain and heart abnormalities (2015) (35)
- Corresponding increase in long-chain acyl-CoA and acylcarnitine after exercise in muscle from VLCAD mice (2009) (35)
- Biotin-responsive Basal Ganglia disease: a treatable differential diagnosis of leigh syndrome. (2013) (34)
- Spectrophotometric microassay for delta-aminolevulinate dehydratase in dried-blood spots as confirmation for hereditary tyrosinemia type I. (2001) (34)
- Evaluation of 6-year application of the enzymatic colorimetric phenylalanine assay in the setting of neonatal screening for phenylketonuria. (2002) (34)
- Neurological manifestations in lysosomal storage disorders - from pathology to first therapeutic possibilities. (2005) (33)
- Chronic pancreatitis in branched-chain organic acidurias—a case of methylmalonic aciduria and an overview of the literature (2011) (32)
- Peroxisomal leukotriene degradation: biochemical and clinical implications. (1993) (32)
- Inborn errors of carbohydrate metabolism. (2010) (31)
- Massive insulin secretion in response to anaerobic exercise in exercise-induced hyperinsulinism. (2005) (31)
- A novel 5q35.3 subtelomeric deletion syndrome (2003) (31)
- Urinary NT-proBNP, NGAL, and H-FABP May Predict Hemodynamic Relevance of Patent Ductus Arteriosus in Very Low Birth Weight Infants (2012) (31)
- 3‐Ureidopropionate contributes to the neuropathology of 3‐ureidopropionase deficiency and severe propionic aciduria: A hypothesis (2001) (31)
- Clinical and biochemical effects of zileuton in patients with the Sjögren-Larsson syndrome (2001) (31)
- Preterm birth in Sjögren-Larsson syndrome. (1999) (30)
- Benzydamine metabolism in vivo is impaired in patients with deficiency of flavin-containing monooxygenase 3. (2004) (30)
- The diagnosis of mitochondrial HMG-CoA synthase deficiency. (2002) (30)
- Aberrant plasma IL-7 and soluble IL-7 receptor levels indicate impaired T-cell response to IL-7 in human tuberculosis (2017) (30)
- Phosphomannomutase deficiency is the main cause of carbohydrate-deficient glycoprotein syndrome with type I isoelectrofocusing pattern of serum sialotransferrins (1997) (30)
- Evidence for impaired gluconeogenesis in very long-chain acyl-CoA dehydrogenase-deficient mice. (2006) (29)
- Dyggve–Melchior–Clausen syndrome and Smith–McCort dysplasia: Clinical and molecular findings in three families supporting genetic heterogeneity in Smith–McCort dysplasia (2006) (29)
- Influence of dietary (n-3)-polyunsaturated fatty acids on leukotriene B4 and prostaglandin E2 synthesis and course of experimental tuberculosis in guinea pigs (1994) (29)
- Glucose-6-Phosphatase Mutation G188R Confers an Atypical Glycogen Storage Disease Type 1b Phenotype (2000) (28)
- Analysis of Documentation Speed Using Web-Based Medical Speech Recognition Technology: Randomized Controlled Trial (2015) (28)
- A patient with glycogen storage disease type Ib presenting with acute myeloid leukemia (AML) bearing monosomy 7 and translocation t(3;8)(q26;q24) after 14 years of treatment with granulocyte colony-stimulating factor (G-CSF): A case report (2008) (28)
- ‘Rituximab as a highly effective treatment in a female adolescent with severe multiple sclerosis’ (2009) (28)
- Leukotrienes in patients with clinically active multiple sclerosis (2002) (28)
- Hyperinsulinism in syndromal disorders (2001) (27)
- Acceptability of an Orodispersible Film Compared to Syrup in Neonates and Infants: A Randomized Controlled Trial. (2020) (27)
- 2-ketoglutarate dehydrogenase deficiency with intermittent 2-ketoglutaric aciduria. (2000) (27)
- Accurate measurement of free carnitine in dried blood spots by isotope-dilution electrospray tandem mass spectrometry without butylation. (2003) (26)
- Rare forms of congenital hyperinsulinism. (2011) (26)
- Neonatal encephalocardiomyopathy caused by mutations in VARS2 (2017) (26)
- Intrahepatic cholestasis of pregnancy (ICP): case report and review of the literature (2016) (26)
- Extended experience with glycine for prevention of reperfusion injury after human liver transplantation. (2002) (26)
- Brown-Vialetto-Van Laere syndrome: a riboflavin-unresponsive patient with a novel mutation in the C20orf54 gene. (2012) (25)
- Schwann Cells From Human Neurofibromas Show Increased Proliferation Rates Under the Influence of Progesterone (2008) (25)
- Deafness, complement deficiencies and immunoglobulin status in patients with meningococcal diseases due to uncommon serogroups (1993) (25)
- 5-Oxoprolinuria in patients with and without defects in the gamma-glutamyl cycle. (1999) (25)
- Transport and in vivo elimination of cysteinyl leukotrienes. (1992) (25)
- Leukotriene C4 synthesis deficiency: a member of a probably underdiagnosed new group of neurometabolic diseases (2000) (24)
- Constitutive STAT3 phosphorylation and IL-6/IL-10 co-expression are associated with impaired T-cell function in tuberculosis patients (2019) (24)
- Modulation of oxidative phosphorylation and redox homeostasis in mitochondrial NDUFS4 deficiency via mesenchymal stem cells (2017) (24)
- Detection of 6-demethoxyubiquinone in CoQ10 deficiency disorders: Insights into enzyme interactions and identification of potential therapeutics. (2017) (23)
- Severe neurological crisis in a patient with hereditary tyrosinaemia type I after interruption of NTBC treatment (2008) (23)
- Mutation analysis in glycogen storage disease type 1 non-a (2000) (23)
- Liquid chromatography tandem mass spectrometry method for the quantitation of NTBC (2-(nitro-4-trifluoromethylbenzoyl)1,3-cyclohexanedione) in plasma of tyrosinemia type 1 patients. (2009) (23)
- Aplasia cutis congenita of the scalp: How much therapy is necessary in large defects? (2005) (23)
- Pott's puffy tumor: a forgotten differential diagnosis of frontal swelling of the forehead. (2012) (23)
- Health Behaviour in Children and Adolescents with Type 1 Diabetes Compared to a Representative Reference Population (2014) (23)
- A novel mutation within a transmembrane helix of the bile salt export pump (BSEP, ABCB11) with delayed development of cirrhosis (2013) (23)
- Glucose transporter type 1 deficiency syndrome with carbohydrate‐responsive symptoms but without epilepsy (2011) (23)
- 4‐Hydroxybenzoic acid restores CoQ10 biosynthesis in human COQ2 deficiency (2017) (22)
- Long-term L-carnitine treatment in isovaleric acidemia. (1991) (22)
- Prevalence of enteropathogenic and enterotoxigenic Escherichia coli in children with and without diarrhoea in Esteli, Nicaragua. (1993) (22)
- A case of Perlman syndrome: fetal gigantism, renal dysplasia, and severe neurological deficits. (2000) (22)
- Glycine reduces reperfusion injury in human liver transplantation: our first patients. (2001) (22)
- Clinical Reasoning: Shuddering attacks in infancy (2008) (22)
- Diagnostic difficulties in glucokinase hyperinsulinism. (2009) (22)
- Synthesis and metabolism of leukotrienes in γ-glutamyl transpeptidase deficiency Published, JLR Papers in Press, February 1, 2004. DOI 10.1194/jlr.M300462-JLR200 (2004) (22)
- Early clinical manifestation of glutaric aciduria type I and nephrotic syndrome during the first months of life (1997) (22)
- Homozygous HOXB1 loss‐of‐function mutation in a large family with hereditary congenital facial paresis (2016) (21)
- Subdural hematoma as clinical presentation of osteogenesis imperfecta. (2005) (21)
- Transplanted Human Pluripotent Stem Cell-Derived Mesenchymal Stem Cells Support Liver Regeneration in Gunn Rats. (2018) (21)
- Toxic epidermal necrolysis in a premature infant of 27 weeks' gestational age (2005) (21)
- Are microRNAs suitable biomarkers of immunity to tuberculosis? (2014) (21)
- Treatment options for lactic acidosis and metabolic crisis in children with mitochondrial disease (2015) (21)
- Pearson marrow-pancreas syndrome with worsening cardiac function caused by pleiotropic rearrangement of mitochondrial DNA. (2002) (21)
- A severely affected infant with absence of cysteinyl leukotrienes in cerebrospinal fluid: further evidence that leukotriene C4-synthesis deficiency is a new neurometabolic disorder. (1999) (20)
- Nemaline myopathy with exclusively intranuclear rods and a novel mutation in ACTA1 (Q139H). (2007) (20)
- Splenic infarction in a patient hereditary spherocytosis, protein C deficiency and acute infectious mononucleosis (2008) (20)
- Effect of the introduction of diagnosis related group systems on the distribution of admission weights in very low birthweight infants (2010) (20)
- Disorders of Mitochondrial Fatty Acid Oxidation and Related Metabolic Pathways (2006) (20)
- Carnitine supplementation induces long-chain acylcarnitine production—Studies in the VLCAD-deficient mouse (2006) (19)
- Urinary Leukotriene E4 Levels Are Not Increased Prior to High-Altitude Pulmonary Edema (2000) (19)
- Richner–Hanhart Syndrome Detected by Expanded Newborn Screening (2008) (19)
- Fatal genetic defect causing Wolman disease (1999) (19)
- Biallelic DMXL2 mutations impair autophagy and cause Ohtahara syndrome with progressive course. (2019) (19)
- Multiple cytokines for the detection of Mycobacterium tuberculosis infection in children with tuberculosis. (2017) (19)
- Molecular diagnosis of type 1c glycogen storage disease (1999) (18)
- A new subtype of a congenital disorder of glycosylation (CDG) with mild clinical manifestations. (2001) (18)
- Increased generation of cysteinyl leukotrienes in Kawasaki disease. (1995) (18)
- Antiepileptic treatment in paediatric oncology--an interdisciplinary challenge. (2006) (18)
- Disseminated pilocytic astrocytoma involving brain stem and diencephalon: a history of atypical eating disorder and diagnostic delay (2006) (18)
- Diagnostic delay of NF1 in hemifacial hypertrophy due to plexiform neurofibromas (2006) (18)
- Ca2+ and Na+ Dependence of 3-Hydroxyglutarate-Induced Excitotoxicity in Primary Neuronal Cultures from Chick Embryo Telencephalons (2002) (17)
- Fatal Non-accidental Alpha-lipoic Acid Intoxication in an Adolescent Girl (2014) (17)
- Urinary leukotriene E4 levels in children with allergic rhinitis treated with specific immunotherapy and anti‐IgE (Omalizumab) (2003) (17)
- Aspects of Newborn Screening in Isovaleric Acidemia (2018) (17)
- The many faces of paediatric mitochondrial disease on neuroimaging (2016) (17)
- Severe intrauterine infection due to Capnocytophaga ochracea. (1991) (17)
- EARS2 mutations cause fatal neonatal lactic acidosis, recurrent hypoglycemia and agenesis of corpus callosum (2016) (17)
- Fulminant progression of hyperammonaemic encephalopathy after treatment with valproate in a patient with ureterosigmoidostomy (2002) (17)
- Diagnosis of glutathione synthetase deficiency in newborn screening (2009) (17)
- Correlation between severity of disease and reimbursement of costs in neonatal and paediatric intensive care patients (2008) (17)
- Screening for non-alcoholic fatty liver disease in children and adolescents with type 1 diabetes mellitus: a cross-sectional analysis (2017) (17)
- Bain type of X‐linked syndromic mental retardation in boys (2019) (16)
- Treatment with long-acting lanreotide autogel in early infancy in patients with severe neonatal hyperinsulinism (2017) (16)
- Liver fibrosis in recessive multicystic kidney diseases: transient elastography for early detection (2011) (16)
- Risk Factors for Adverse Neurodevelopment in Transient or Persistent Congenital Hyperinsulinism (2020) (16)
- Early peristalsis following epidural analgesia during abdominal surgery in an extremely low birth weight infant (2007) (16)
- iRhom2 inhibits bile duct obstruction–induced liver fibrosis (2019) (16)
- Intrauterine cardiomyopathy and cardiac mitochondrial proliferation in mitochondrial trifunctional protein (TFP) deficiency. (2008) (16)
- Evaluation of Acoustic Radiation Force Impulse Imaging (ARFI) for the Determination of Liver Stiffness Using Transient Elastography as a Reference in Children (2015) (16)
- S-Acetylglutathione normalizes intracellular glutathione content in cultured fibroblasts from patients with glutathione synthetase deficiency (2004) (16)
- Structural (βα)8 TIM Barrel Model of 3-Hydroxy-3-methylglutaryl-Coenzyme A Lyase* (2003) (15)
- β‐Ureidopropionase Deficiency Presenting with Febrile Status Epilepticus (2006) (15)
- Rapid Detection and Immune Characterization of Mycobacterium abscessus Infection in Cystic Fibrosis Patients (2015) (15)
- Elevated urinary excretion of nitric oxide metabolites in young infants with Zellweger syndrome. (2003) (15)
- Enhanced urinary excretion of leukotriene E4 in patients with mevalonate kinase deficiency. (1993) (15)
- Simultaneous LC-MS/MS determination of phenylbutyrate, phenylacetate benzoate and their corresponding metabolites phenylacetylglutamine and hippurate in blood and urine (2010) (15)
- Biochemical and molecular studies in mild flavin monooxygenase 3 deficiency (2000) (15)
- Probable idiopathic intracranial hypertension in pre-pubertal children (2008) (15)
- Adolescent ischemic stroke associated with anabolic steroid and cannabis abuse (2013) (14)
- Carnitine deficiency associated with ornithine transcarbamylase deficiency. (1991) (14)
- Fatal glioblastoma multiforme in a patient with neurofibromatosis type I: the dilemma of systematic medical follow-up (2007) (14)
- Increased urinary leukotriene E4 during febrile attacks in the hyperimmunoglobulinaemia D and periodic fever syndrome (2001) (14)
- Clinical findings and a therapeutic trial in the first patient with beta-ureidopropionase deficiency. (2006) (14)
- Blue native electrophoresis to study mitochondrial complex I in C. elegans. (2010) (14)
- Update on mitochondrial fatty acid oxidation disorders (2010) (14)
- Therapy-refractory gastrointestinal motility disorder in a child with c-kit mutations. (2010) (14)
- Successful management of neonatal hemochromatosis by exchange transfusion and immunoglobulin: a case report (2013) (14)
- Blue Diaper Syndrome and PCSK1 Mutations (2018) (14)
- LTB4 and LTC4 are absent in the cerebrospinal fluid of human immunodeficiency virus type 1-seropositive persons with toxoplasmic encephalitis: evidence for inhibition of 5-lipoxygenase by Toxoplasma gondii. (1999) (14)
- Seasonal Variation and Atypical Presentation of Idiopathic Intracranial Hypertension in Pre-Pubertal Children (2007) (14)
- NMDAR antagonists for the treatment of diabetes mellitus—Current status and future directions (2017) (14)
- A prospective clinical pilot-trial comparing the effect of an optimized mixed diet versus a flexible low-glycemic index diet on nutrient intake and HbA1c levels in children with type 1 diabetes (2011) (13)
- Transient Ischaemic Attack in a 5-Year-Old Girl due to Focal Vasculitis in Neuroborreliosis (2013) (13)
- Congenital glaucoma in cutis marmorata teleangiectatica congenita. (1991) (13)
- Cat scratch disease--heterogeneous in clinical presentation: five unusual cases of an infection caused by Bartonella henselae. (2010) (13)
- Endothelial, inducible and neuronal nitric oxide synthase in congenital pulmonary lymphangiectasis (2006) (13)
- Atypical vitamin B12-unresponsive methylmalonic aciduria in a sibship with severe progressive encephalomyelopathy: A new genetic disease? (1996) (13)
- Deficient α-galactosidase A activity in plasma but no Fabry disease – a pitfall in diagnosis (2005) (13)
- Association of exercise-induced hyperinsulinaemic hypoglycaemia with MCT1-expressing insulinoma (2012) (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)
- Somatic Development in Children with Congenital Heart Defects (2018) (12)
- Coexisting variants in OSTM1 and MANEAL cause a complex neurodegenerative disorder with NBIA-like brain abnormalities (2017) (12)
- A patient with neurological symptoms and abnormal leukotriene metabolism: A new defect in leukotriene biosynthesis (2005) (12)
- Recurrent brain edema in ornithine-transcarbamylase deficiency (1999) (12)
- “Crying without tears” as an early diagnostic sign-post of triple A (Allgrove) syndrome: two case reports (2018) (12)
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- Impaired Degradation of Prostaglandins and Thromboxane in Zellweger Syndrome (1994) (11)
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- Genetic cause and prevalence of hydroxyprolinemia (2016) (11)
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- Genetic Analysis of the First 4 Patients with β-Ureidopropionase Deficiency (2006) (10)
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- Increased urinary excretion of LTB4 and ω-carboxy-LTB4 in patients with Zellweger syndrome (1999) (10)
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- Approach to the management of slipped capital femoral epiphysis and primary hyperparathyroidism (2012) (10)
- 12- and 15-Hydroxyeicosatetraenoic Acid Are Excreted in the Urine of Peroxisome-Deficient Patients: Evidence for Peroxisomal Metabolismin Vivo (1996) (10)
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- Status epilepticus due to attempted suicide with isoniazid (2006) (10)
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- Two-Hit in vitro T-Cell Stimulation Detects Mycobacterium tuberculosis Infection in QuantiFERON Negative Tuberculosis Patients and Healthy Contacts From Ghana (2019) (9)
- Bi-allelic Variants in RALGAPA1 Cause Profound Neurodevelopmental Disability, Muscular Hypotonia, Infantile Spasms, and Feeding Abnormalities. (2020) (9)
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- Increased excretion of endogenous urinary leukotriene E4 in extrahepatic cholestasis. (1993) (8)
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- Acute neuronopathic Gaucher disease complicated by fatal gastrointestinal bleeding. (2006) (8)
- Persistent right umbilical vein associated with complex congenital cardiac malformation. (2006) (8)
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- Defects in the synthesis of cysteinyl leukotrienes: A new group of inborn errors of metabolism (2000) (7)
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- Hereditary Sensory and Autonomic Neuropathy With Autonomic Crises (2012) (7)
- Virtual auscultation course for medical students via video chat in times of COVID-19 (2020) (7)
- An IL7RA exon 5 polymorphism is associated with impaired IL-7Rα splicing and protection against tuberculosis in Ghana (2018) (7)
- Dominant TNFα and impaired IL‐2 cytokine profiles of CD4+ T cells from children with type‐1 diabetes (2017) (7)
- Conservative treatment of tracheal injuries (2014) (7)
- Defective degradation of leukotrienes in peroxisomal-deficient human hepatocytes. (1996) (7)
- Composition of foods and dishes commonly consumed in villages of the Gezira area of Sudan. III. Fatty Acids, Retinol, α‐, β‐ Carotene and Tocopherols (1991) (7)
- Composition of foods and dishes commonly consumed in villages of the Gezira area of Sudan ii. Amino acids and protein quality (1991) (7)
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- Severe ichthyosis in MPDU1-CDG (2018) (7)
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- Biallelic mutations in PIGP cause developmental and epileptic encephalopathy (2019) (6)
- Hyperuricaemia and medium-chain acyl-CoA dehydrogenase deficiency (1997) (6)
- Increased urinary excretion of dicarboxylic acids and 4-hydroxyphenyllactic acid in patients with Zellweger syndrome (1995) (6)
- Need for Better Diabetes Treatment: The Therapeutic Potential of NMDA Receptor Antagonists (2016) (6)
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- Interleukin‐7 receptor α‐chain haplotypes differentially affect soluble IL‐7 receptor and IL‐7 serum concentrations in children with type 1 diabetes (2018) (6)
- CD27 expression of T-cells discriminates IGRA-negative TB patients from healthy contacts in Ghana. (2019) (6)
- Hypertrichosis in presymptomatic mitochondrial disease (2013) (6)
- “How Much Brain Is Really Necessary?” A Case of Complex Cerebral Malformation and Its Clinical Course (2007) (6)
- Fragile X mental retardation protein protects against tumour necrosis factor-mediated cell death and liver injury (2019) (6)
- Pericardial effusion in glycanosis CDG type I (MIM 212 065): an inflammatory endoplasmic reticulum overload response? (1998) (6)
- Urinary Excretion of Pentose Phosphate Pathway-Associated Polyols in Early Postnatal Life (2008) (6)
- Unilateral facial flushing and sweating after physical exercise: Harlequin syndrome. (2011) (6)
- Crossed Cerebellar Diaschisis after Status Epilepticus in a Young Child (2012) (6)
- Metabolic decompensation and lactic acidosis in propionic acidaemia complicated by thiamine deficiency (1999) (6)
- Influence of D-arabitol and ribitol on neuronal network activity (2005) (6)
- Arginase-1 overexpression induces Cationic Amino Acid Transporter-1 in Psoriasis (2005) (6)
- Sarcosinaemia in a patient with severe progressive neurological damage and hypertrophic cardiomyopathy (1997) (5)
- Severe hyperhomocysteinaemia and 5-oxoprolinuria secondary to antiproliferative and antimicrobial drug treatment (2005) (5)
- Neonatal pleural empyema in an extremely low birth weight infant (2009) (5)
- Acute metabolic crisis with extreme deficiency of glutathione in combination with decreased CSF levels of leukotriene C4 in a patient with glutathione synthetase deficiency (2004) (5)
- Granulocyte Colony Stimulating Factor for Treatment of Neutropenia-associated Infection in Pearson Syndrome (2014) (5)
- Disturbed metabolism of guanidino compounds characterized by elevated excretion of β-guanidinopropionic acid and γ-guanidinobutyric acid – An effect of vigabatrin treatment? (1998) (5)
- Reliability and Observer Dependence of Signs of Neonatal Hypoglycemia. (2022) (5)
- Lower IL-7 Receptor Expression of Monocytes Impairs Antimycobacterial Effector Functions in Patients with Tuberculosis (2021) (5)
- Favourable Outcome in Two Pregnancies in a Patient with 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency. (2017) (5)
- Highly Elevated Plasma γ‐Glutamyltransferase Elevations: A Trait Caused by γ‐Glutamyltransferase 1 Transmembrane Mutations (2019) (5)
- Glycogen storage disease type Ib without hypoglycemia. (2007) (5)
- Nasogastric vs. Intravenous Rehydration in Children with Gastroenteritis and Refusal to Drink: A Randomized Controlled Trial (2014) (5)
- Urinary alpha-ketoglutarate is elevated in patients with hyperinsulinism-hyperammonemia syndrome. (2004) (5)
- Acute purulent pericarditis in pneumococcal meningitis (2005) (5)
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- Presumed Arterial Gas Embolism After Breath-Hold Diving in Shallow Water (2015) (5)
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- Deficient synthesis of cysteinyl leukotrienes in glutathione synthetase deficiency. (1993) (4)
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- CD4+ T-Cells With High Common γ Chain Expression and Disturbed Cytokine Production Are Enriched in Children With Type-1 Diabetes (2019) (4)
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- Vitamin E status of Congolese children in a rural area. (1990) (4)
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- IL-13 as Target to Reduce Cholestasis and Dysbiosis in Abcb4 Knockout Mice (2020) (3)
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- Brown-Vialetto-Van Laere syndrome: A riboflavin-unresponsive patient with a novel mutation in the C20orf54 gene (2012) (3)
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- Non-enhanced ECG-gated respiratory-triggered 3-D steady-state free-precession MR angiography with slab-selective inversion: initial experience in visualisation of renal arteries in free-breathing children without renal artery abnormality (2012) (3)
- Sedation of Children during Measurement of CSF Opening Pressure: Lack of Standardisation in German Children with Pseudotumor Cerebri (2011) (3)
- Approach to the management of slipped capital femoral epiphysis and primary hyperparathyroidism. (2012) (3)
- Clinical symptoms, biochemical studies and therapeutic approaches in a sibship with a new congenital tubulopathy (1999) (3)
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- Severe hyperchloriduria-hyperkaliuria: a new congenital renal tubular abnormality? (1996) (2)
- Risk Factors for Brain Injury After Transient or Persistent Hyperinsulinemic Hypoglycemia in Neonates (2019) (2)
- Pharmacologic Antagonization of Cannabinoid Receptor 1 Improves Cholestasis in Abcb4-/- Mice (2021) (2)
- Current opinion in pediatric metabolic disease (2011) (2)
- Interleukin‐7‐dependent nonclassical monocytes and CD40 expression are affected in children with type 1 diabetes (2021) (2)
- Inborn errors of bile acid metabolism and their diagnostic confirmation by means of mass spectrometry (2011) (2)
- MRPL44 mutations cause a slowly progressive multisystem disease with childhood-onset hypertrophic cardiomyopathy (2015) (2)
- Abstracts of the 33rd Annual Conference of the Arbeitsgemeinschaft für Pädiatrische Stoffwechselstörungen (APS) (Association for pediatric metabolic disorders) (2019) (2)
- d-STORAGE POOL DISEASE IN INFANCY WITH ABSENCE OF BLOOD SEROTONIN ASSOCIATED WITH PSYCHOMOTOR RETARDATION (2001) (2)
- Clinical, biochemical and molecular genetic characteristics of 19 patients with the Sjo¨gren–Larsson syndrome (2001) (2)
- Congenital Hyperinsulinism: Overview and Clinical Update (2011) (2)
- Enhanced excretion of urinary leukotriene E4 in mevalonic aciduria is not caused by an impaired peroxisomal degradation of cysteinyl leukotrienes (1997) (2)
- Pancreatitis in Maple Syrup Urine Disease – A Rare and Easily Overseen Complication (2013) (2)
- Acute onset toe walking. Video documentation of “Benign acute childhood myositis” (2008) (2)
- Leucine and glucose kinetics in glycogen storage disease type IIIa (1997) (2)
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- Hyperinsulinemic Hypoglycemia Associated with a CaV1.2 Variant with Mixed Gain- and Loss-of-Function Effects (2022) (2)
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- Recognizable pattern of arthrogryposis and congenital myopathy caused by the recurrent TTN metatranscript-only c.39974-11T>G splice variant. (2022) (2)
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- Evaluation of lipoprotein‐associated phospholipase A2 as a marker for renal microvasculopathy in adolescents with Type 1 diabetes (2019) (2)
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- Hepatitis B virus surface proteins accelerate cholestatic injury and tumor progression in Abcb4-knockout mice. (2017) (1)
- Cardiometabolic risk factor clustering in patients with deficient branched‐chain amino acid catabolism: A case‐control study (2020) (1)
- TGR5 knockout mice are highly susceptible to LCA induced liver damage (2015) (1)
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- ZFP57-related Transient Neonatal Diabetes Responsive to Oral Sulfonylurea Treatment (2019) (1)
- Glutathione Synthetase Deficiency: An Inborn Error of the Gamma-Glutamyl Cycle (2011) (1)
- 3-Methylglutaconic aciduria associated with hepatosplenomegaly, macrocytic anaemia, fever episodes, recurrent infections, cervical lymphadenopathy and progressive decrease of physical performance (1998) (1)
- Inborn errors of metabolism- early detection, key symptoms and therapeutic options (2013) (1)
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- Childhood-onset Leigh syndrome transforming into an episodic weakness phenotype with axonal neuropathy caused by MT-ATP6 mutations (2017) (1)
- Postnatal changes in human acylcarnitine profile (1999) (1)
- Optic pathway gliomas in children with neurofibromatosis type 1: a long term study in 38 patients (2010) (1)
- Arginase 1 deficiency: long-term follow-up of the original patients (2015) (1)
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- Plasma cytokine levels characterize disease pathogenesis and treatment response in tuberculosis patients (2022) (1)
- Minireview:Cell biological consequences of Leigh syndrome (2011) (1)
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- Defective Degradation of Leukotrienes in Peroxisomal-Deficient Human Hepatocytes 161 (1996) (0)
- Rare Causes of Childhood Stroke: A Single-Center Experience (2016) (0)
- Experimental Study (2020) (0)
- Shuddering attacks as an important differential diagnosis of infantile epilepsy. A video-EEG presentation (2006) (0)
- Mesenchymal stem cells improve redox homeostasis and mitochondrial respiration in fibroblast cell lines with pathogenic MT-ND3 and MT-ND6 variants (2022) (0)
- Protective Role of TGR5 against Portal Hypertension in LCA induced toxic liver damage (2016) (0)
- TGR5 Signalling is Essential for Bile Acid-Dependent Cholangiocyte Proliferation in Vivo (2016) (0)
- Impaired T-cell response to phytohemagglutinin (PHA) in tuberculosis patients is associated with high IL-6 plasma levels and normalizes early during anti-mycobacterial treatment. (2023) (0)
- IMPAIRED SYNTHESIS OF CYSTEINYL LEUKOTRIENES IN GLUTATHIONE SYNTHETASE DEFICIENCY (1994) (0)
- How do we sedate children undergoing CSF opening pressure measurement? Results of a Germany-wide survey (2011) (0)
- Modulation of oxidative phosphorylation and redox homeostasis in mitochondrial NDUFS4 deficiency via mesenchymal stem cells (2017) (0)
- Contents, Vol. 202, 1991 (1991) (0)
- Lower Monocyte Interleukin-7 Receptor Expression Impairs Anti-Mycobacterial Effector Functions in Tuberculosis Patients (2020) (0)
- Correction to: The antioxidant Trolox restores mitochondrial membrane potential and Ca2+-stimulated ATP production in human complex I deficiency (2021) (0)
- Crossed cerebellar diaschisis after status epilepticus (2011) (0)
- University of Southern Denmark Comparative meta-analysis of Kabuki syndrome with and without hyperinsulinaemic hypoglycaemia Hoermann, (2020) (0)
- Hyperargininemia due to arginase I deficiency: the original patients and their natural history, and a review of the literature (2015) (0)
- Late-Onset Meningitis by Group B Streptococci: A Cause for Cerebrovascular Complications (2014) (0)
- 151 LEUKOTRIENES IN PROTEIN ENERGY MALNUTRITION: NEW ASPECTS IN THE PATHOPHYSIOLOGY OF KWASHIORKOR (1994) (0)
- T-cell responses against Mycobacterium ulcerans and Mycobacterium tuberculosis protein extracts identify children with Buruli ulcer disease. (2022) (0)
- Inherited Duplication (X) (p11.4) Associated with Obesity, Autoaggressive Behaviour and Delayed Speech Development (2016) (0)
- Contiguous Gene Syndrome Involving DAX1 Deletion with Congenital Adrenal Insufficiency (2016) (0)
- Childhood arterial ischemic stroke related to anabolic steroid and cannabis abuse (2011) (0)
- ZFP57-associated Transient Neonatal Diabetes is Responsive to Oral Sulfonylurea Treatment (2018) (0)
- Seasonal clustering of prepubertal idiopathic intracranial hypertension (2006) (0)
- Physiology and pathophysiology of polyols (2005) (0)
- Neonatal encephalocardiomyopathy caused by mutations in VARS2 (2016) (0)
- Doxycycline treatment of Mansonella perstans infected individuals affects immune cell activation and causes long-term T-cell polarization. (2022) (0)
- Recurrent fever episodes after treatment of a subdural empyema: persisting infection or autoimmunological reaction? (2013) (0)
- 161 Fatal Hypertensive Crisis As Presentation Of Complex I Deficiency (2004) (0)
- On being a child and having children with the changing times (2001) (0)
- Protecting against brain damage by improving treatment in neonates with hypoglycaemia: ProBrain-D—a study protocol of a prospective longitudinal study (2022) (0)
- Neuroimaging in Primary Coenzyme-Q10-Deficiency Disorders (2023) (0)
- IMPAIRED DEGRADATION OF LEUKOTRIENES IN PATIENTS WITH PEROXISOMAL DEFICIENCY DISORDERS (1992) (0)
- A New Congenital Tubulopathy: Symptoms, Pathophysiology and Therapeutic Possibilities 167 (1996) (0)
- Author response for "Suppressor of cytokine signaling 3 is crucial for interleukin‐7 receptor re‐expression after T‐cell activation and interleukin‐7 dependent proliferation" (2019) (0)
- False-Positive Increases of Steroid Hormone Precursors Mimicking 11 beta-Hydroxylase-Deficiency in a Preterm Infant (2016) (0)
- Neurofibroma-derived Schwann cells hyperproliferate in response to progesterone (2005) (0)
- Mitoxantrone as rescue therapy in two children with worsening multiple sclerosis (2005) (0)
- Contents Vol. 101, 2012 (2012) (0)
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What Schools Are Affiliated With Ertan Mayatepek?
Ertan Mayatepek is affiliated with the following schools:
