Nenad Blau
#134,206
Most Influential Person Now
Researcher
Nenad Blau's AcademicInfluence.com Rankings
Nenad Blaubiology Degrees
Biology
#9069
World Rank
#12227
Historical Rank
Biotechnology
#117
World Rank
#119
Historical Rank
Computational Biology
#174
World Rank
#175
Historical Rank
Molecular Biology
#1206
World Rank
#1232
Historical Rank
Download Badge
Chemistry Biology
Nenad Blau's Degrees
- PhD Biochemistry University of Zagreb
- Masters Chemistry University of Zagreb
- Bachelors Chemistry University of Zagreb
Why Is Nenad Blau Influential?
(Suggest an Edit or Addition)Nenad Blau'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
- Tetrahydrobiopterin biosynthesis, regeneration and functions. (2000) (790)
- The complete European guidelines on phenylketonuria: diagnosis and treatment (2017) (387)
- Tetrahydrobiopterin: biochemistry and pathophysiology. (2011) (364)
- Clinical and molecular phenotype of Aicardi-Goutieres syndrome. (2007) (358)
- Nitric oxide synthase is not a constituent of the antimicrobial armature of human mononuclear phagocytes. (1993) (346)
- Phenylketonuria (1961) (318)
- Physician’s Guide to the Laboratory Diagnosis of Metabolic Diseases (2003) (279)
- Cerebral folate deficiency (2004) (255)
- Key European guidelines for the diagnosis and management of patients with phenylketonuria. (2017) (253)
- Autoantibodies to folate receptors in the cerebral folate deficiency syndrome. (2005) (237)
- Laboratory guide to the methods in biochemical genetics (2008) (226)
- Achondrogenesis type IB is caused by mutations in the diastrophic dysplasia sulphate transporter gene (1996) (222)
- Mutations in the sepiapterin reductase gene cause a novel tetrahydrobiopterin-dependent monoamine-neurotransmitter deficiency without hyperphenylalaninemia. (2001) (216)
- Phenylketonuria Scientific Review Conference: state of the science and future research needs. (2014) (207)
- The neurochemistry of phenylketonuria (2000) (198)
- Epidermal H(2)O(2) accumulation alters tetrahydrobiopterin (6BH4) recycling in vitiligo: identification of a general mechanism in regulation of all 6BH4-dependent processes? (2001) (190)
- Diagnosis, classification, and genetics of phenylketonuria and tetrahydrobiopterin (BH4) deficiencies. (2011) (189)
- Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis. (2010) (186)
- Pathogenesis of cognitive dysfunction in phenylketonuria: review of hypotheses. (2010) (181)
- The metabolic and molecular bases of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency. (2004) (181)
- Mutations in the BH4‐metabolizing genes GTP cyclohydrolase I, 6‐pyruvoyl‐tetrahydropterin synthase, sepiapterin reductase, carbinolamine‐4a‐dehydratase, and dihydropteridine reductase (2006) (175)
- Tetrahydrobiopterin deficiencies without hyperphenylalaninemia: diagnosis and genetics of dopa-responsive dystonia and sepiapterin reductase deficiency. (2001) (172)
- Molecular genetics of tetrahydrobiopterin‐responsive phenylalanine hydroxylase deficiency (2008) (166)
- Folate receptor autoimmunity and cerebral folate deficiency in low-functioning autism with neurological deficits. (2007) (161)
- Clinical and biochemical features of aromatic L-amino acid decarboxylase deficiency (2010) (156)
- A proposed nosology of inborn errors of metabolism (2018) (146)
- Genetics of Phenylketonuria: Then and Now (2016) (146)
- Characterization of Mouse and Human GTP Cyclohydrolase I Genes (1995) (143)
- Cerebral folate deficiency with developmental delay, autism, and response to folinic acid (2005) (138)
- Chronic treatment with tetrahydrobiopterin reverses endothelial dysfunction and oxidative stress in hypercholesterolaemia (2007) (136)
- Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency (2017) (133)
- Optimizing the use of sapropterin (BH(4)) in the management of phenylketonuria. (2009) (131)
- Sepiapterin reductase deficiency: A Treatable Mimic of Cerebral Palsy (2012) (123)
- Comparison of C-reactive protein and white blood cell count with differential in neonates at risk for septicaemia (1995) (120)
- High frequency of tetrahydrobiopterin-responsiveness among hyperphenylalaninemias: a study of 1,919 patients observed from 1988 to 2002. (2002) (120)
- Plasma tetrahydrobiopterin and its pharmacokinetic following oral administration. (2004) (118)
- Gene Expression Profiling of Inflamed Human Endothelial Cells and Influence of Activated Protein C (2004) (108)
- Long-term treatment with tetrahydrobiopterin increases phenylalanine tolerance in children with severe phenotype of phenylketonuria. (2005) (107)
- An international survey of patients with tetrahydrobiopterin deficiencies presenting with hyperphenylalaninaemia (2012) (106)
- Expanded motor and psychiatric phenotype in autosomal dominant Segawa syndrome due to GTP cyclohydrolase deficiency (2005) (105)
- Cerebrospinal fluid pterins and folates in Aicardi-Goutières syndrome (2003) (104)
- Management of phenylketonuria in Europe: survey results from 19 countries. (2010) (104)
- Biallelic Mutations in DNAJC12 Cause Hyperphenylalaninemia, Dystonia, and Intellectual Disability. (2017) (103)
- Dihydrofolate reductase deficiency due to a homozygous DHFR mutation causes megaloblastic anemia and cerebral folate deficiency leading to severe neurologic disease. (2011) (103)
- Mutations in human monoamine‐related neurotransmitter pathway genes (2008) (103)
- Assessment of tetrahydrobiopterin (BH4) responsiveness in phenylketonuria. (2007) (101)
- Physician's Guide to the Treatment and Follow-Up of Metabolic Diseases (2006) (101)
- Diagnosis of dopa-responsive dystonia and other tetrahydrobiopterin disorders by the study of biopterin metabolism in fibroblasts. (2001) (98)
- Pediatric urolithiasis in Armenia: a study of 198 patients observed from 1991 to 1999 (2001) (95)
- Psychomotor retardation, spastic paraplegia, cerebellar ataxia and dyskinesia associated with low 5-methyltetrahydrofolate in cerebrospinal fluid: a novel neurometabolic condition responding to folinic acid substitution. (2003) (93)
- A milk‐free diet downregulates folate receptor autoimmunity in cerebral folate deficiency syndrome (2008) (92)
- Molecular genetics and diagnosis of phenylketonuria: state of the art (2014) (88)
- Reduced folate transport to the CNS in female Rett patients (2003) (88)
- Beneficial effects of L‐serine and glycine in the management of seizures in 3‐phosphoglycerate dehydrogenase deficiency (1998) (86)
- The Genetic Landscape and Epidemiology of Phenylketonuria. (2020) (84)
- International database of tetrahydrobiopterin deficiencies (1996) (83)
- Urinary oxalate excretion in urolithiasis and nephrocalcinosis (2000) (82)
- MITOCHONDRIAL DISEASES ASSOCIATED WITH CEREBRAL FOLATE DEFICIENCY (2008) (80)
- Molecular genetics and impact of residual in vitro phenylalanine hydroxylase activity on tetrahydrobiopterin responsiveness in Turkish PKU population. (2011) (78)
- Long-term Follow-up and Outcome of Phenylketonuria Patients on Sapropterin: A Retrospective Study (2013) (78)
- Regulation of the L-arginine-dependent and tetrahydrobiopterin-dependent biosynthesis of nitric oxide in murine macrophages. (1993) (78)
- Challenges and Pitfalls in the Management of Phenylketonuria (2010) (77)
- A vertical (pseudodominant) pattern of inheritance in the autosomal recessive disease primary hyperoxaluria type 1: lack of relationship between genotype, enzymic phenotype, and disease severity. (1997) (77)
- GTP cyclohydrolase I deficiency, a new enzyme defect causing hyperphenylalaninemia with neopterin, biopterin, dopamine, and serotonin deficiencies and muscular hypotonia (1984) (75)
- Inborn errors of pterin metabolism. (1988) (73)
- Human carbonyl and aldose reductases: new catalytic functions in tetrahydrobiopterin biosynthesis. (1991) (72)
- Long-term treatment of patients with mild and classical phenylketonuria by tetrahydrobiopterin. (2005) (72)
- Genotype-predicted tetrahydrobiopterin (BH4)-responsiveness and molecular genetics in Croatian patients with phenylalanine hydroxylase (PAH) deficiency. (2009) (71)
- Tetrahydrobiopterin Deficiency: From Phenotype to Genotype (1993) (71)
- An international classification of inherited metabolic disorders (ICIMD) (2020) (71)
- Outcome and long-term follow-up of 36 patients with tetrahydrobiopterin deficiency. (2008) (71)
- Evaluation of urinary acylglycines by electrospray tandem mass spectrometry in mitochondrial energy metabolism defects and organic acidurias. (2000) (70)
- Cerebral folate deficiency and CNS inflammatory markers in Alpers disease. (2010) (70)
- Long-term course of l-dopa-responsive dystonia caused by tyrosine hydroxylase deficiency (2004) (69)
- Successful treatment of phenylketonuria with tetrahydrobiopterin (2001) (69)
- The interplay between genotype, metabolic state and cofactor treatment governs phenylalanine hydroxylase function and drug response. (2011) (69)
- Mutations in the GTP cyclohydrolase I and 6‐pyruvoyl‐tetrahydropterin synthase genes (1997) (69)
- Nitric oxide and infection: another view. (1995) (68)
- Linking genotypes database with locus-specific database and genotype–phenotype correlation in phenylketonuria (2014) (68)
- Fluctuations in phenylalanine concentrations in phenylketonuria: a review of possible relationships with outcomes. (2013) (67)
- Tetrahydrobiopterin, its Mode of Action on Phenylalanine Hydroxylase, and Importance of Genotypes for Pharmacological Therapy of Phenylketonuria (2013) (66)
- Heterozygous mutation in 5’-untranslated region of sepiapterin reductase gene (SPR) in a patient with dopa-responsive dystonia (2004) (65)
- Dwarfism and Low Insulin-like Growth Factor-1 Due to Dopamine Depletion in Pts–/– Mice Rescued by Feeding Neurotransmitter Precursors and H4-biopterin* (2003) (62)
- Knowledge base and mini-expert platform for the diagnosis of inborn errors of metabolism (2017) (62)
- Effect of BH4 supplementation on phenylalanine tolerance (2009) (61)
- Cerebral folate deficiency: life-changing supplementation with folinic acid. (2005) (61)
- Phenylalanine hydroxylase-stimulating protein/pterin-4 alpha-carbinolamine dehydratase from rat and human liver. Purification, characterization, and complete amino acid sequence. (1993) (61)
- Extended tetrahydrobiopterin loading test in the diagnosis of cofactor-responsive phenylketonuria: a pilot study. (2005) (61)
- Folate receptor autoantibodies and spinal fluid 5-methyltetrahydrofolate deficiency in Rett syndrome. (2007) (60)
- Phenylketonuria (1964) (58)
- Phenotypic variability, neurological outcome and genetics background of 6‐pyruvoyl‐tetrahydropterin synthase deficiency (2010) (58)
- Efficacy of oral citrate administration in primary hyperoxaluria. (1995) (57)
- Guanosine triphosphate cyclohydrolase I assay in human and rat liver using high-performance liquid chromatography of neopterin phosphates and guanine nucleotides. (1983) (56)
- Sepiapterin reductase deficiency an autosomal recessive DOPA-responsive dystonia. (2006) (54)
- Dopa-responsive hypersomnia and mixed movement disorder due to sepiapterin reductase deficiency (2006) (53)
- DNAJC12 and dopa‐responsive nonprogressive parkinsonism (2017) (50)
- Hyperphenylalaninemia with high levels of 7-biopterin is associated with mutations in the PCBD gene encoding the bifunctional protein pterin-4a-carbinolamine dehydratase and transcriptional coactivator (DCoH). (1998) (50)
- Modulation of human endothelial cell tetrahydrobiopterin synthesis by activating and deactivating cytokines: new perspectives on endothelium-derived relaxing factor. (1993) (50)
- Tetrahydrobiopterin shows chaperone activity for tyrosine hydroxylase (2008) (50)
- Mitochondrial complex I encephalomyopathy and cerebral 5-methyltetrahydrofolate deficiency. (2007) (50)
- Hyperphenylalaninemia due to defects in tetrahydrobiopterin metabolism: molecular characterization of mutations in 6-pyruvoyl-tetrahydropterin synthase. (1994) (49)
- Molecular analysis and long-term follow-up of patients with different forms of 6-pyruvoyl-tetrahydropterin synthase deficiency (2001) (48)
- Aromatic amino acid decarboxylase deficiency: Molecular and metabolic basis and therapeutic outlook. (2019) (48)
- Increase of GTP cyclohydrolase I activity in mononuclear blood cells by stimulation: detection of heterozygotes of GTP cyclohydrolase I deficiency. (1985) (48)
- A missense mutation in a patient with guanosine triphosphate cyclohydrolase I deficiency missed in the newborn screening program. (1995) (47)
- Tetrahydrobiopterin Responsiveness in Phenylketonuria. Two New Cases and a Review of Molecular Genetic Findings (2002) (46)
- Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency in Dutch neonates (2001) (46)
- Nitric oxide production depends on preceding tetrahydrobiopterin synthesis by endothelial cells: selective suppression of induced nitric oxide production by sepiapterin reductase inhibitors. (1994) (45)
- DNAJC12 deficiency: A new strategy in the diagnosis of hyperphenylalaninemias. (2018) (45)
- Dihydropteridine reductase deficiency: Physical structure of the QDPR gene, identification of two new mutations and genotype–phenotype correlations (1998) (44)
- Primapterin, anapterin, and 6-oxo-primapterin, three new 7-substituted pterins identified in a patient with hyperphenylalaninemia. (1988) (44)
- Tetrahydrobiopterin and inherited hyperphenylalaninemias. (1996) (44)
- Regulation of 6-pyruvoyltetrahydropterin synthase activity and messenger RNA abundance in human vascular endothelial cells. (1998) (44)
- Allelic phenotype values: a model for genotype-based phenotype prediction in phenylketonuria (2018) (44)
- Tetrahydrobiopterin responsiveness in phenylketonuria: prediction with the 48-hour loading test and genotype (2013) (43)
- Unique aspects of sequence variant interpretation for inborn errors of metabolism (IEM): The ClinGen IEM Working Group and the Phenylalanine Hydroxylase Gene (2018) (43)
- Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency: possible regulation of gene expression in a patient with the homozygous L48S mutation. (2002) (41)
- Alternative therapies to address the unmet medical needs of patients with phenylketonuria (2015) (41)
- Tetrahydrobiopterin as another EDRF in man. (1994) (41)
- Autosomal recessive GTP cyclohydrolase I deficiency without hyperphenylalaninemia: evidence of a phenotypic continuum between dominant and recessive forms. (2008) (40)
- Urinary saturation and nephrocalcinosis in preterm infants: effect of parenteral nutrition. (1993) (40)
- Long-term follow-up of a patient with mild tetrahydrobiopterin-responsive phenylketonuria. (2004) (39)
- Mutations in the pterin-4α-carbinolamine dehydratase (PCBD) gene cause a benign form of hyperphenylalaninemia (1998) (39)
- Detection of sepiapterin in CSF of patients with sepiapterin reductase deficiency. (2002) (39)
- Diagnosis of tetrahydrobiopterin deficiency using filter paper blood spots: further development of the method and 5 years experience (2011) (39)
- 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)
- Sapropterin dihydrochloride for the treatment of hyperphenylalaninemias (2013) (37)
- Neonatal dopa-responsive extrapyramidal syndrome in twins with recessive GTPCH deficiency (2003) (37)
- Mutations in the cyclic adenosine monophosphate response element of the tyrosine hydroxylase gene (2007) (36)
- Dopa‐responsive dystonia and early‐onset Parkinson's disease in a patient with GTP cyclohydrolase I deficiency? (2006) (36)
- Potential role of tetrahydrobiopterin in the treatment of maternal phenylketonuria. (2003) (36)
- Disease‐causing mutations improving the branch site and polypyrimidine tract: Pseudoexon activation of LINE‐2 and antisense Alu lacking the poly(T)‐tail (2009) (36)
- Atypical (Mild) Forms of Dihydropteridine Reductase Deficiency: Neurochemical Evaluation and Mutation Detection (1992) (35)
- Structural and Functional Consequences of Mutations in 6-Pyruvoyltetrahydropterin Synthase Causing Hyperphenylalaninemia in Humans (1995) (35)
- 7-substituted pterins in humans with suspected pterin-4a-carbinolamine dehydratase deficiency. Mechanism of formation via non-enzymatic transformation from 6-substituted pterins. (1992) (35)
- Cerebrospinal fluid biogenic amines depletion and brain atrophy in adult patients with phenylketonuria (2019) (34)
- Cerebral folate deficiency: a neurometabolic syndrome? (2011) (34)
- 7-Substituted pterins. A new class of mammalian pteridines. (1990) (34)
- Screening for tetrahydrobiopterin deficiencies using dried blood spots on filter paper. (2005) (34)
- Molecular heterogeneity of nonphenylketonuria hyperphenylalaninemia in 25 Danish patients. (1994) (34)
- Positive effect of a simplified diet on blood phenylalanine control in different phenylketonuria variants, characterized by newborn BH4 loading test and PAH analysis. (2012) (34)
- Co-expression of phenylalanine hydroxylase variants and effects of interallelic complementation on in vitro enzyme activity and genotype-phenotype correlation. (2016) (33)
- Reduced nitric oxide metabolites in CSF of patients with tetrahydrobiopterin deficiency (2002) (33)
- Differential diagnosis of hyperphenylalaninaemia by a combined phenylalanine-tetrahydrobiopterin loading test (1993) (32)
- Interleukin 1 beta and cAMP trigger the expression of GTP cyclohydrolase I in rat renal mesangial cells. (1996) (32)
- Late diagnosis of primary hyperoxaluria after failed kidney transplantation (2010) (32)
- Atypical presentation of distal renal tubular acidosis in two siblings (2008) (31)
- Critical Role of Interleukin-1&bgr; for Transcriptional Regulation of Endothelial 6-Pyruvoyltetrahydropterin Synthase (2003) (31)
- GTP-cyclohydrolases: a review. (1985) (30)
- Quantification of phenylalanine hydroxylase activity by isotope-dilution liquid chromatography-electrospray ionization tandem mass spectrometry. (2012) (30)
- Variant of dihydropteridine reductase deficiency without hyperphenylalaninaemia: Effect of oral phenylalanine loading (1999) (30)
- Chromosomal localization, genomic structure and characterization of the human gene and a retropseudogene for 6-pyruvoyltetrahydropterin synthase. (1996) (30)
- Hyperprolactinemia, a Tool in Treatment Control of Tetrahydrobiopterin Deficiency: Endocrine Studies in an Affected Girl (1998) (30)
- Defining tetrahydrobiopterin (BH4)-responsiveness in PKU (2008) (29)
- Effect of antiepileptic drugs and reactive oxygen species on folate receptor 1 (FOLR1)-dependent 5-methyltetrahydrofolate transport. (2010) (29)
- Hyperphenylalaninemia and pterin metabolism in serum and erythrocytes. (1993) (29)
- Nuclear localization of tetrahydrobiopterin biosynthetic enzymes. (2004) (29)
- Serine 19 of Human 6-Pyruvoyltetrahydropterin Synthase Is Phosphorylated by cGMP Protein Kinase II* (1999) (29)
- Mental illness in mild PKU responds to biopterin. (2002) (29)
- Diagnostic and management practices for phenylketonuria in 19 countries of the South and Eastern European Region: survey results (2015) (28)
- Heterogeneous clinical spectrum of DNAJC12-deficient hyperphenylalaninemia: from attention deficit to severe dystonia and intellectual disability (2017) (28)
- Biopterin‐dependent hyperphenylalaninemia due to deficiency of 6‐pyruvoyl tetrahydropterin synthase (1991) (28)
- Simultaneous determination of oxalate, glycolate, citrate, and sulfate from dried urine filter paper spots in a pediatric population. (1998) (28)
- Can untreated PKU patients escape from intellectual disability? A systematic review (2018) (28)
- Identification of mutations causing 6‐pyruvoyl‐tetrahydropterin synthase deficiency in four Italian families (1997) (27)
- Stimulation of hepatic phenylalanine hydroxylase activity but not Pah-mRNA expression upon oral loading of tetrahydrobiopterin in normal mice. (2005) (27)
- Metabolic Evaluation of Epilepsy: A Diagnostic Algorithm With Focus on Treatable Conditions (2018) (27)
- Clinical and biochemical footprints of inherited metabolic diseases. II. Metabolic liver diseases. (2019) (27)
- Tetrahydrobiopterin is a secretory product of murine vascular endothelial cells. (1994) (26)
- Analysis of 5-methyltetrahydrofolate in serum of healthy children. (2006) (26)
- Disorders of Phenylalanine and Tetrahydrobiopterin Metabolism (2022) (26)
- Advances and challenges in phenylketonuria (2010) (25)
- Splicing of phenylalanine hydroxylase (PAH) exon 11 is vulnerable: molecular pathology of mutations in PAH exon 11. (2012) (25)
- Neurological improvement following intravenous high-dose folinic acid for cerebral folate transporter deficiency caused by FOLR-1 mutation. (2016) (25)
- Diminished production of nitric oxide synthase cofactor tetrahydrobiopterin by rosiglitazone in adipocytes. (2003) (25)
- Syndromic intellectual disability: a new phenotype caused by an aromatic amino acid decarboxylase gene (DDC) variant. (2015) (25)
- Phenylketonuria and BH4 deficiencies (2010) (25)
- Treatable neurotransmitter deficiency in mild phenylketonuria (2001) (25)
- Child Neurology: Paroxysmal stiffening, upward gaze, and hypotonia (2012) (25)
- Influence of nutrition on urinary oxalate and calcium in preterm and term infants (1997) (24)
- Biosynthesis and significance of neopterin in the immune system. (1989) (24)
- Pyridoxal phosphate-responsive seizures in a patient with cerebral folate deficiency (CFD) and congenital deafness with labyrinthine aplasia, microtia and microdontia (LAMM). (2011) (24)
- Monitoring treatment in tetrahydrobiopterin deficiency by serum prolactin (1996) (24)
- A noncoding RNA modulator potentiates phenylalanine metabolism in mice (2021) (24)
- Pharmacokinetics of orally administered tetrahydrobiopterin in patients with phenylalanine hydroxylase deficiency (2006) (24)
- Autism associated with low 5-hydroxyindolacetic acid in CSF and the heterozygous SLC6A4 gene Gly56Ala plus 5-HTTLPR L/L promoter variants. (2011) (24)
- Nitrite generation in interleukin-4-treated human macrophage cultures does not involve the nitric oxide synthase pathway. (1997) (23)
- Functional Tetrahydrobiopterin Synthesis in Human Platelets (2004) (23)
- Nephrolithiasis in a child with glucose-galactose malabsorption (2004) (23)
- Two Greek siblings with sepiapterin reductase deficiency. (2008) (23)
- CRISPR RNA-guided FokI nucleases repair a PAH variant in a phenylketonuria model (2016) (23)
- Allosteric characteristics of GTP cyclohydrolase I from Escherichia coli. (1992) (22)
- Relationship between genotype, phenylalanine hydroxylase expression and in vitro activity and metabolic phenotype in phenylketonuria. (2018) (22)
- Value of the Urinary Stone Promoters/Inhibitors Ratios in the Estimation of the Risk of Urolithiasis (2000) (21)
- A novel neurodevelopmental syndrome responsive to 5-hydroxytryptophan and carbidopa. (2001) (21)
- Mutation spectrum of hyperphenylalaninemia candidate genes and the genotype-phenotype correlation in the Chinese population. (2018) (21)
- Phenylalanine hydroxylase variants interact with the co‐chaperone DNAJC12 (2019) (20)
- Sapropterin dihydrochloride for phenylketonuria and tetrahydrobiopterin deficiency (2010) (20)
- Spontaneous remission of Cushing's syndrome in a patient with an adrenal adenoma. (1975) (20)
- Pterins and Related Enzymes (2008) (20)
- Two novel genetic lesions and a common BH4-responsive mutation of the PAH gene in Italian patients with hyperphenylalaninemia. (2002) (20)
- Disorders of Histidine Metabolism (2006) (19)
- Clinical and biochemical footprints of inherited metabolic diseases. I. Movement disorders. (2019) (19)
- Characterization of the Human PCBD Gene Encoding the Bifunctional Protein Pterin-4α-carbinolamine Dehydratase/Dimerization Cofactor for the Transcription Factor Hnf-1α (1995) (19)
- Sepiapterin reductase deficiency in a 2-year-old girl with incomplete response to treatment during short-term follow-up (2009) (19)
- Dihydropteridine reductase deficiency: Levodopa’s long-term effectiveness without dyskinesia (2006) (18)
- Phenylalanine loading as a diagnostic test for DRD: interpreting the utility of the test. (2004) (18)
- Clinical and genetic studies in a family with a novel mutation in the sepiapterin reductase gene (2014) (18)
- Molecular and metabolic bases of tetrahydrobiopterin (BH4) deficiencies. (2021) (18)
- Determination of Urine Saturation with Computer Program Equil 2 As a Method for Estimation of the Risk of Urolithiasis (1998) (18)
- Phenylalanine loading in pediatric patients with dopa-responsive dystonia: revised test protocol and pediatric cutoff values (2010) (18)
- New approaches to treat PKU: how far are we? (2004) (17)
- Induction of tetrahydrobiopterin synthesis in human umbilical vein smooth muscle cells by inflammatory stimuli. (1998) (17)
- Dopamine-Responsive Growth-Hormone Deficiency and Central Hypothyroidism in Sepiapterin Reductase Deficiency. (2015) (17)
- Long‐term follow‐up and adult outcome of 6‐pyruvoyl‐tetrahydropterin synthase deficiency (2006) (17)
- Tetrahydrobiopterin loading test in xanthine dehydrogenase and molybdenum cofactor deficiencies. (1996) (17)
- Assessment of Tetrahydrobiopterin (BH 4) Responsiveness in Phenylketonuria (2007) (17)
- Dihydropteridine reductase deficiency localized to the central nervous system (1998) (16)
- Pharmacokinetics of tetrahydrobiopterin following oral loadings with three single dosages in patients with phenylketonuria (2009) (16)
- Sepiapterin Reductase Deficiency: Molecular Analysis in a New Case Presenting with Neurotransmitter Deficiency without Hyperphenylalaninemia (2002) (16)
- Expression and characterization of recombinant human and rat liver 6-pyruvoyl tetrahydropterin synthase. Modified cysteine residues inhibit the enzyme activity. (1994) (16)
- Think big — think omics (2018) (16)
- Monamine oxidase inhibitors in tetrahydrobiopterin deficiency (1995) (15)
- Cytokine-induced metabolic effects in human adipocytes are independent of endogenous nitric oxide. (2006) (15)
- Reconstitution of a metabolic pathway with triple‐cistronic IRES‐containing retroviral vectors for correction of tetrahydrobiopterin deficiency (2000) (15)
- Progression of 6-pyruvoyl-tetrahydropterin synthase deficiency from a peripheral into a central phenotype (1990) (14)
- The first European guidelines on phenylketonuria: Usefulness and implications for BH4 responsiveness testing (2020) (14)
- Antenatal diagnosis of tetrahydrobiopterin deficiency by quantification of pterins in amniotic fluid and enzyme activity in fetal and extrafetal tissue. (1994) (14)
- Screening for tetrahydrobiopterin deficiency in newborns using dried urine on filter paper (1992) (14)
- Analysis of Calcium, Oxalate, and Citrate Interaction in Idiopathic Calcium Urolithiasis in Children (2003) (14)
- The challenges of managing coexistent disorders with phenylketonuria: 30 cases. (2015) (13)
- Sepiapterin reductase deficiency: Two Indian siblings with unusual clinical features (2010) (13)
- In vitro residual activity of phenylalanine hydroxylase variants and correlation with metabolic phenotypes in PKU. (2016) (13)
- Hyperphenylalaninemia caused by dihydropteridine reductase deficiency in children receiving chemotherapy for acute lymphoblastic leukemia. (1989) (13)
- Dominant negative allele (N47D) in a compound heterozygote for a variant of 6‐pyruvoyltetrahydropterin synthase deficiency causing transient hyperphenylalaninemia (1999) (13)
- Pre‐ and postnatal diagnosis of tyrosine hydroxylase deficiency (2005) (13)
- 6-pyruvoyl tetrahydropterin synthase from salmon liver: amino acid sequence analysis by tandem mass spectrometry. (1992) (13)
- Aluminium and acid rain: Mitigating effects of NaCl on aluminium toxicity to brown trout (salmo trutta fario) in acid water∗ (1989) (13)
- Peptiduria presumably caused by aminopeptidase-P deficiency. A new inborn error of metabolism (1988) (13)
- 6‐Pyruvoyl‐tetrahydropterin synthase deficiency with mild hyperphenylalaninemia (2005) (12)
- Generation of an iPSC line from a patient with GTP cyclohydrolase 1 (GCH1) deficiency: HDMC0061i-GCH1. (2017) (12)
- Inhalation of the nitric oxide synthase cofactor tetrahydrobiopterin in healthy volunteers. (1997) (12)
- Inactivity of nitric oxide synthase gene in the atherosclerotic human carotid artery (2007) (12)
- Isolated central form of tetrahydrobiopterin deficiency associated with hemizygosity on chromosome 11q and a mutant allele of PTPS (2000) (12)
- Folinic acid therapy in cerebral folate deficiency: marked improvement in an adult patient (2017) (12)
- Structural and Functional Consequences of Mutations in 6-Pyruvoyltetrahydropterin Synthase Causing Hyperphenylalaninemia in Humans PHOSPHORYLATION IS A REQUIREMENT FOR IN VIVO ACTIVITY* (1995) (12)
- Retrovirus‐Mediated Double Transduction of the GTPCH and PTPS Genes Allows 6‐Pyruvoyltetrahydropterin Synthase‐Deficient Human Fibroblasts to Synthesize and Release Tetrahydrobiopterin (1998) (12)
- Phase I clinical evaluation of CNSA-001 (sepiapterin), a novel pharmacological treatment for phenylketonuria and tetrahydrobiopterin deficiencies, in healthy volunteers. (2019) (12)
- Management of Phenylketonuria: Current Position (2011) (12)
- Novel mutation affecting the pterin-binding site of PTS gene and review of PTS mutations in Thai patients with 6-pyruvoyltetrahydropterin synthase deficiency (2009) (12)
- Clinical and biochemical footprints of inherited metabolic diseases. III. Psychiatric presentations. (2020) (12)
- TETRAHYDROBIOPTERIN AND "NON-RESPONSIVE" DIHYDROPTERIDINE REDUCTASE DEFICIENCY (1987) (12)
- 6-Pyruvoyltetrahydropterin Synthase Deficiency: Review and Report of 28 Arab Subjects. (2019) (12)
- The application of 8-aminoguanosine triphosphate, a new inhibitor of GTP cyclohydrolase I, to the purification of the enzyme from human liver. (1986) (11)
- The spectrum of phenylketonuria genotypes in the Armenian population: identification of three novel mutant PAH alleles. (2011) (11)
- BIOMDB : Database of Mutations Causing Tetrahydrobiopterin Deficiencies (2005) (11)
- There is no doubt that the early identification of PKU and prompt and continuous intervention prevents mental retardation in most patients. (2011) (10)
- Neurotransmitter trafficking defect in a patient with clathrin (CLTC) variation presenting with intellectual disability and early-onset parkinsonism. (2019) (10)
- Pitfalls in phenylalanine loading test in the diagnosis of dopa-responsive dystonia. (2013) (10)
- Recessive mutations in PCBD 1 cause a new type of early-onset diabetes Short title : PCBD 1 mutations cause diabetes (2014) (9)
- Tetrahydrobiopterin (BH4) responsiveness in neonates with hyperphenylalaninemia: a semi-mechanistically-based, nonlinear mixed-effect modeling. (2015) (9)
- Effects of activating and deactivating cytokines on the functionally linked tetrahydrobiopterin. No pathways in vascular smooth muscle cells. (1996) (9)
- Clinical and biochemical footprints of inherited metabolic diseases. IV. Metabolic cardiovascular disease. (2020) (9)
- Tetrahydrobiopterin deficiency and an international database of patients. (1993) (9)
- Hyperphenylalaninemia and 7-pterin excretion associated with mutations in 4a-hydroxy-tetrahydrobiopterin dehydratase/DCoH: analysis of enzyme activity in intestinal biopsies. (2000) (9)
- Retrovirus-mediated gene transfer of 6-pyruvoyl-tetrahydropterin synthase corrects tetrahydrobiopterin deficiency in fibroblasts from hyperphenylalaninemic patients. (1996) (9)
- Long-term plasma exchange in a case of Refsum's disease (2005) (9)
- R208X mutation in CLN2 gene associated with reduced cerebrospinal fluid pterins in a girl with classic late infantile neuronal ceroid lipofuscinosis. (2003) (9)
- Clinical and biochemical footprints of inherited metabolic disease. V. Cerebral palsy phenotypes. (2021) (9)
- Targeted cerebrospinal fluid analysis for inborn errors of metabolism on an LC‐MS/MS analysis platform (2020) (9)
- Long-term clinical outcome of 6-pyruvoyl-tetrahydropterin synthase-deficient patients. (2020) (9)
- Generation of an iPSC line from a patient with tyrosine hydroxylase (TH) deficiency: TH-1 iPSC. (2016) (9)
- Neopterin in AIDS, other immunodeficiencies, and bacterial and viral infections (1986) (8)
- Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency : Diagnosis , treatment , genetics , and international BIOPKU database (2004) (8)
- A splice mutation in the GTP cyclohydrolase I gene causes dopa-responsive dystonia by exon skipping (2001) (8)
- New variant of hyperphenylalaninaemia with excretion of 7-substituted pterins (1988) (8)
- A New Tyrosine Hydroxylase Genotype Associated With Early-Onset Severe Encephalopathy (2012) (8)
- Massive hemopericardium in a patient with postmyocardial infarction syndrome. (1977) (8)
- Mildly compromised tetrahydrobiopterin cofactor biosynthesis due to Pts variants leads to unusual body fat distribution and abdominal obesity in mice (2016) (8)
- Effect of high-protein meal plus aspartame ingestion on plasma phenylalanine concentrations in obligate heterozygotes for phenylketonuria. (1994) (8)
- Structure, genomic localization and recombinant expression of the mouse 6-pyruvoyl-tetrahydropterin synthase gene. (1998) (8)
- 6-Pyruvoyl Tetrahydropterin Synthase in Human Tissues and Cell Lines (1991) (8)
- Clinical and biochemical footprints of inherited metabolic diseases. VI. Metabolic dermatoses. (2021) (7)
- Monitoring Treatment in Tetrahydrobiopterin Deficiency (1991) (7)
- Optimized loading test to evaluate responsiveness to tetrahydrobiopterin (BH4) in Brazilian patients with phenylalanine hydroxylase deficiency. (2011) (7)
- Genotype–phenotype correlation in dihydropteridine reductase deficiency (2000) (7)
- Issues with European guidelines for phenylketonuria - Authors' reply. (2017) (7)
- Hyperphenylalaninemia due to inherited deficiencies of tetrahydrobiopterin. (1989) (7)
- Deprenyl in the treatment of patients with tetrahydrobiopterin deficiencies (2000) (6)
- Mutation Analysis In Patients with 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency (1995) (6)
- Tetrahydrobiopterin in the treatment of infantile hypertrophic pyloric stenosis. (1997) (6)
- Different Strategies In the Treatment of Dihydropteridine Reductase Deficiency (1996) (6)
- Tetrahydrobiopterin synthesis precedes nitric oxide-dependent inhibition of insulin secretion in INS-1 rat pancreatic beta-cells. (1997) (6)
- Hyperphenylalaninaemia due to tetrahydrobiopterin deficiency: A report of 16 cases (1993) (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)
- Screening and treatment of tetrahydrobiopterin deficiency (1990) (6)
- Identification of new steroids in patients with 17 alpha-hydroxylase deficiency by capillary gas chromatography/mass spectrometry. (1987) (6)
- Single-step mutation scanning of the 6-pyruvoyltetrahydropterin synthase gene in patients with hyperphenylalaninemia. (1999) (6)
- Effect of collection and preprocessing methods on neutrophil elastase plasma concentrations. (1998) (6)
- Differential diagnosis of disorders of biogenic amines metabolism. (1998) (5)
- Tetrahydrobiopterin control in phenylketonuria (2003) (5)
- Molecular genetics of phenylketonuria and tetrahydrobiopterin deficiency in Jordan (2020) (5)
- GUANOSINE - TRIPHOSPHATE CYCLOHYDROLASE - DEFICIENCY : ANALYSIS OF THE INFLUENCE ON IMMUNE PARAMETERS IN A GIRL (1983) (5)
- Tetrahydrobiopterin-Responsive Phenylalanine Hydroxylase (2002) (5)
- Systemic Tetrahydrobiopterin (BH4) Levels and Coronary Artery Disease (2001) (5)
- A new semiautomated fluorometric method for estimation of small amounts of L-dopa in human urine. (1977) (5)
- Tetrahydrobiopterin in biomedical research (2009) (5)
- Deprenyl in 6-Pyruvoyl Tetrahydropterin Synthase Deficiency (1995) (5)
- Tetrahydrobiopterin-responsive hyperphenylalaninaemia due to homozygous mutations in the phenylalanine hydroxylase gene (2003) (5)
- GTP-cyclohydrolase and vitiligo (1997) (5)
- Neonatal hyperphenylalaninemia, perinatal hemochromatosis, and renal tubulopathy: a unique patient or a novel metabolic disorder? (2005) (5)
- Disorders of Folate Metabolism and Transport (2022) (5)
- Clinical and biochemical footprints of inherited metabolic disorders. VII. Ocular phenotypes. (2022) (5)
- Role of protein structure in variant annotation: structural insight of mutations causing 6-pyruvoyl-tetrahydropterin synthase deficiency. (2019) (5)
- Mutational spectrum of PTS gene and in silico pathological assessment of a novel variant in Mexico (2018) (4)
- Genome sequencing identifies a homozygous inversion disrupting QDPR as a cause for dihydropteridine reductase deficiency (2020) (4)
- Exploratory study of the effect of one week of orally administered CNSA-001 (sepiapterin) on CNS levels of tetrahydrobiopterin, dihydrobiopterin and monoamine neurotransmitter metabolites in healthy volunteers (2019) (4)
- In vitro immunization with antigen directly blotted from SDS-polyacrylamide gels to polyvinylidene difluoride membranes. (1993) (4)
- Use of a ruthenium(III), iron(II), and nickel(II) hexacyanometallate-modified graphite electrode with immobilized oxalate oxidase for the determination of urinary oxalate. (2001) (4)
- Homocarnosinosis: A historical update and findings in the SPG11 gene (2018) (4)
- Text-based phenotypic profiles incorporating biochemical phenotypes of inborn errors of metabolism improve phenomics-based diagnosis (2018) (4)
- The Role of Folate Receptor Autoimmunity in Cerebral Folate Deficiency (2007) (4)
- Possible impact of tetrahydrobiopterin and sepiapterin on endothelial dysfunction. (2003) (4)
- Separation of low molecular weight proteins with SDS-PAGE using taurine as a new trailing ion. (2001) (4)
- Amino acid composition of brain cysts: levels of excitatory amino acids in cyst fluid fail to predict seizures (2003) (4)
- Clinical and biochemical footprints of inherited metabolic diseases. VIII. Neoplasias. (2022) (4)
- Dihydrofolate Reductase Deficiency Is Caused by a Homozygous DHFR Mutation and Leads to Congenital Megaloblastic Anemia and Cerebral Folate Deficiency (2010) (4)
- The complete European guidelines on phenylketonuria (2017) (4)
- Mutations and Phenotypes In Dihydropteridine Reductase Deficiency in Italy (1996) (3)
- Molecular genetics and diagnosis of phenylketonuria : state of the art Expert (2014) (3)
- Tetrahydrobiopterin disorders presenting with hyperphenylalaninemia (2014) (3)
- P276 Folinic acid substitution in Alpers disease (2009) (3)
- Tetrahydrobiopterin induced neonatal tyrosinaemia (1996) (3)
- Prenatal diagnosis in primary hyperphenylalaninemias (1993) (3)
- Molecular genetics of tetrahydrobiopterin‐responsive phenylalanine hydroxylase deficiency (2008) (3)
- Clinical and biochemical footprints of inherited metabolic disorders: X. Metabolic myopathies. (2022) (3)
- Diagnostic potential of neutrophil elastase inhibitor complex in the routine care of critically ill newborn infants (2000) (3)
- Combined phenylalanine-tetrahydrobiopterin loading test in GTP cyclohydrolase 1 deficiency (1994) (3)
- Possible high frequency of tetrahydrobiopterin deficiency in South Brazil (1994) (3)
- Purification and characterization of 6-pyruvoyl tetrahydropterin synthase from human pituitary gland. (1992) (3)
- Nomenclature and laboratory diagnosis of tetrahydrobiopterin deficiencies (2005) (3)
- Characterization of the human PCBD gene encoding the bifunctional protein pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor for the transcription factor HNF-1 alpha. (1995) (3)
- Chemistry and biology of pteridines, 1989 : pteridines and folic acid derivatives : proceedings of the Ninth International Symposium on Pteridines and Folic Acid Derivatives, Chemical, Biological, and Clinical Aspects, Zurich, Switzerland, September 3-8, 1989 (1990) (3)
- Primapterinuria: A Clinical Update (1991) (3)
- HPLC OF NEOPTERIN PHOSPHATES Application to the Study of GTP-Cyclohydrolases (1982) (3)
- Suspected pterin-4a-carbinolamine dehydratase deficiency: Hyperphenylalaninaemia due to inhibition of phenylalanine hydroxylase by tetrahydro-7-biopterin (1992) (3)
- The cerebrospinal fluid level of 5-methylterahydrofolate in a Japanese boy with hypomyelination with atrophy of the basal ganglia and cerebellum. (2007) (3)
- Unusual Case of Phenylketonuria With Atypical Brain Magnetic Resonance Imaging Findings (2013) (3)
- Leonine facial appearances in cluster headache patients (1992) (3)
- Severe mucitis after sublingual administration of tetrahydrobiopterin in a patient with tetrahydrobiopterin-responsive phenylketonuria (2005) (3)
- Simple Tests in Urine and Blood (2003) (3)
- Other Metabolic Disorders (2006) (2)
- Isolation of 6-Pyruvoyl-tetrahydropterin Synthase cDNAs from Human Brain (1996) (2)
- Interleukin 1 β and cAMP trigger the expression of GTP cyclohydrolase I in rat renal mesangial cells (1996) (2)
- Primapterinuria: A New Variant of Atypical Phenylketonuria (1989) (2)
- Clinical and biochemical footprints of inherited metabolic diseases. IX. Metabolic ear disease. (2022) (2)
- Prenatal Diagnosis of Atypical Phenylketonuria (1989) (2)
- Differential entrance of tetrahydrobiopterin into the brain of patients with 6-pyruvoil tetrahydropterin synthase deficiency (1989) (2)
- Unconjugated Pterins and Related Biogenic Amines: Proceedings of the First International Workshop Flims, Switzerland, February 28-March 7, 1987 (1987) (2)
- Spectrum of DDC variants causing aromatic l-amino acid decarboxylase (AADC) deficiency and pathogenicity interpretation using ACMG-AMP/ACGS recommendations. (2022) (2)
- Inborn errors in tetrahydrobiopterin metabolism (1990) (2)
- Genomic Organization of Mouse and Human GTP Cyclohydrolase I Genes and Mutations Found in the Human Gene (1995) (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)
- Neopterin and AIDS. (1988) (2)
- Guanosine triphosphate cyclohydrolase I deficiency: a rare cause of hyperphenylalaninemia. (1999) (2)
- Phenotype of five patients with dopa-responsive dystonia and mutations in GCH1 (2005) (1)
- Five years of synergistic scientific effort on phenylketonuria therapeutic development and molecular understanding (2005) (1)
- Phenotyping and treatment of phenylketonuria – Authors' reply (2011) (1)
- Accurate assignment of disease liability to genetic variants using only population data (2021) (1)
- Hyperphenylalaninaemia presumably due to carbinolamine dehydratase deficiency: Loading tests with pterin derivatives (1992) (1)
- Prenatal Diagnosis of Dihydropteridine Reductase Deficiency in a Twin Pregnancy (1991) (1)
- Oxalate, glycolate, glycerate, sulfate, and citrate (2008) (1)
- Unusual case of atypical PKU: peripheral or central form of PPH4S deficiency (1990) (1)
- CYANOGEN BROMIDE CLEAVAGE OF PROTEINS ON BLOTS AND SUBSEQUENT SEPARATION OF THE FRAGMENTS BY POLYACRYLAMIDE GEL ELECTROPHORESIS DIRECTLY FROM THOSE BLOTS (1993) (1)
- Importance of the long non-coding RNA (lncRNA) transcript HULC for the regulation of phenylalanine hydroxylase and treatment of phenylketonuria. (2022) (1)
- Cerebral folate de fi ciency : A neurometabolic syndrome ? ☆ , ☆ ☆ (2011) (1)
- Production of monoclonal antibodies against human 6-pyruvoyl tetrahydropterin synthase and immunocytochemical localization of the enzyme. (1992) (1)
- Folate Receptor Autoimmunity and Cerebral Folate Defi ciency in Low-Functioning Autism with Neurological (2008) (1)
- Altered tetrahydrobiopterin metabolism in patients with phenylalanine hydroxylase deficiency (2017) (1)
- Diagnosis of hyperphenylalaninemias (2016) (1)
- Disorders of Glutathione and γ-Glutamyl Cycle (2014) (1)
- Differences of Phenylalanine Concentrations in Dried Blood Spots and in Plasma: Erythrocytes as a Neglected Component for This Observation (2021) (1)
- Human liver 6-pyruvoyl-tetrahydropterin synthase: expression of the cDNA, purification and preliminary characterization of the recombinant protein. (1993) (1)
- Progress in the study of biosynthesis and role of 7-substituted pterins: function of pterin-4a-carbinolamine dehydratase. (1993) (1)
- A case of 6-pyruvoyl-tetrahydropterin synthase deficiency after screening 1 500 000 newborns in Greece (1991) (1)
- ' s personal copy Autism associated with low 5-hydroxyindolacetic acid in CSF and the heterozygous SLC 6 A 4 gene Gly 56 Ala plus 5-HTTLPR L / L promoter variants (2011) (1)
- Clinical and biochemical footprints of inherited metabolic disorders. XI. Gastrointestinal symptoms. (2023) (1)
- Accurate assignment of disease liability to genetic variants using only population data. (2021) (1)
- Neurotransmitter Abnormalities and Response to L-Dopa in SPG11 (P05.133) (2012) (0)
- FOLLOW-UP AND OUTCOME OF PKU PATIENTS ON SAPROPTERIN/BH4-PRELIMINARY RESULTS OF A RETROSPECTIVE EUROPEAN MULTICENTER STUDY (2012) (0)
- Subject Index Vol. 94, 2000 (2001) (0)
- Phenotyping and treatment of phenylketonuria Reply (2011) (0)
- University of Southern Denmark Splicing of phenylalanine hydroxylase (PAH) exon 11 is vulnerable-Molecular pathology of mutations in PAH exon 11 Heintz, (2012) (0)
- P205 – 1655 Autosomal dominant guanine triphosphate cyclohydrolase deficiency (GTPCH; Segawa's disease) (2013) (0)
- Bi-allelic mutations in DNAJC12 cause hyperphenylalaninemia, neurotransmitter deficiencies, dystonia and intellectual disability (2017) (0)
- Diethylstilbestrol inhibits the estrogen-binding activity of pregnancy plasma; possible role in DES-associated pathology. (1985) (0)
- PRENATAL DIAGNOSIS OF TETRAHYDROBIOPTERIΝ DEFICIENCY (1987) (0)
- A proposed nosology of inborn errors of metabolism (2018) (0)
- REDUCED BIOTINIDASE ACTIVITY IN PATIENTS WITH CONGENITAL DISORDERS OF GLYCOSYLATION (CDG): BIOTIN AS A NEW THERAPEUTIC APPROACH? (2023) (0)
- More transgenic mouse models of dopamine deficiency (2004) (0)
- Tetrahydrobiopterin-(BH 4 -)Mangelkrankheiten (2014) (0)
- Abstracts to VIIIth International Conference on Inborn Errors of Metabolism Cambridge, UK, 13–17 September 2000 (2000) (0)
- THE LOCUS-SPECIFIC DATABASE OF VARIANTS CAUSING AROMATIC AMINO ACIDS DECARBOXYLASE (AADC) DEFICIENCY (2022) (0)
- Influence of Total Parenteral Nutrition on Urinary Calcium Oxalate Saturation and the Development of Nephrocalcinosis in Preterm Infants (1994) (0)
- Parenteral Nutrition in Pre-Term Infants:Influence on the Development of Nephrocalcinosis (1997) (0)
- Molecular basis of dihydropteridine reductase (DHPR) deficiency: report of 5 new mutations and genotype/fenotype correlation. (1999) (0)
- PATHOGENICITY CLASSIFICATION OF PHENYLALANINE HYDROXYLASE () MISSENSE VARIANTS USING ACMG/AMP/ACGS RECOMMENDATIONS, VARIANT EFFECT PREDICTORS (VEP) AND 3D ANALYSI (2023) (0)
- 4th International Conference on Pteridines and Related Biogenic Amines (1990) (0)
- Tetrahydrobiopterin deficiency in Portugal: results of the screening for hyperphenylalaninemia. (1993) (0)
- [Homocystinuria: case reports with a note on hyperhomocysteinemia as a risk factor for the early onset of vascular disease]. (1994) (0)
- Genetics of PKU (2016) (0)
- Long-term follow-up and outcome of patients with tetrahydrobiopterin deficiency (2008) (0)
- Sepiapterin reductase de W ciency an autosomal recessive DOPA-responsive dystonia (2006) (0)
- Primary hyperoxaluria-Croarian experience (2014) (0)
- Erratum to: Diagnosis of tetrahydrobiopterin deficiency using filter paper blood spots: further development of the method and 5 years experience (2011) (0)
- Disorders of biogenic amines neurotransmission: Polish experience (2008) (0)
- MDO04 Paroxysmal dopa-responsive dystonia and sepiapterine reductase deficiecy (2007) (0)
- Failure to thrive and nephrolithiasis in a boy with congenital cyanotic heart anomaly—questions (2011) (0)
- Clinical and biochemical footprints of inherited metabolic diseases. XII. Immunological defects. (2023) (0)
- Screening for tetrahydrobiopterin de W ciencies using dried blood spots on W lter paper (2005) (0)
- Abstracts - SSIEM 37th Annual Symposium (1999) (0)
- Autoantibodies against Folate Receptors and the Infantile-Onset Cerebral Folate Deficiency Syndrome (2005) (0)
- Signs and symptoms of neurotransmitter disorders: approach to diagnosis (2014) (0)
- Reprint from Unconjugated Pterins and Related Biogenic Amines 1h-n~1r Stud Ies with Tetrahydrob Iopteri Ns, Ev Idence for the Structure of 6-pyruvoyltetrahydropterin, an Interr>1ediate in the Biosynthesis of Tetra Hydrobiopterin (0)
- Brief communication Cerebral folate deWciency: life-changing supplementation with folinic acid (2005) (0)
- CLINICAL AND BIOCHEMICAL FOOTPRINTS OF INHERITED METABOLIC DISORDERS: A LESSON FROM THE KNOWLEDGEBASE (2022) (0)
- Systematic investigation for biopterin defects in hyperphenylalaninemic patients (1990) (0)
- Year : 2011 Diagnosis , classification , and genetics of phenylketonuria and tetrahydrobiopterin ( BH 4 ) deficiencies (2017) (0)
- Validity of Baggio s ratio (oxalate/citrate x glycosaminoglycans) in diagnosis of idiopathic urolithiasis (2014) (0)
- Epidemiology, molecular genetics, and new treatment options for aromatic amino acid decarboxylase deficiency (2019) (0)
- Hereditary dystonia or parkinson – a patient with both – and problems concerning diagnostic, treatment and genetic counselling (2005) (0)
- Birth of new exons in LINE-2 and in antisense AluSq by intronic mutations in the PTS gene leading to tetrahydrobiopterin (BH4)-cofactor deficiency1 (2008) (0)
- Hans-Christoph Curtius, Obituary (2009) (0)
- A rare presentation of 6-pyruvoyl tetrahydropterin synthase (PTPS) deficiency - Dopa Responsive Dystronia (DRD) (2007) (0)
- Erratum (2002) (0)
- Folinic acid therapy in cerebral folate deficiency (2017) (0)
- Unusual case of atypic PKU: peripheral or central formo f PPH4S deficiency? (1990) (0)
- 7-substituted pterins: formation and occurrence. (1992) (0)
- Comprar Laboratory Guide to the Methods in Biochemical Genetics | Blau, Nenad | 9783540766971 | Springer (2008) (0)
- Management of phenylketonuria (PKU) in Europe: A review from 8 countries (2008) (0)
- Extended tetrahydrobiopterin (BH4) loading test in the diagnosis of BH4_responsive PKU (2005) (0)
- 96 DIFFERENTIAL DIAGNOSIS OF HYPERPHENYLALANI N-AEMIA (HPA) AND FOLLOW UP OF SEVEN PATIENTS WITH TETRAHYDROBIOPTERIN (BH4) DEFICIENCY (1990) (0)
- TETRAHYDROBIOPTERIN RESPONSIVENESS IN PKU (2012) (0)
- Importance of CSF in the diagnosis of Pediatric Neurotransmitter Disorders and Cerebral Folate Deficiency (CFD) (2005) (0)
- Failure to thrive and nephrolithiasis in a boy with congenital cyanotic heart anomaly: answers (2011) (0)
- Allelic phenotype values: a model for genotype-based phenotype prediction in phenylketonuria (2018) (0)
- CNBr-cleavage of proteins on blots and subsequent separation of the fragments by polyacryamide gel electrophoresis (PAGE) directly from those blots (1992) (0)
- 169 ELEVEN YEARS OF SCREENING ON TETRAHYDROBIOPTERIN DEFICIENCY: THE ZURICH EXPERIENCE (1990) (0)
- Abstracts. Eighteenth International Winter-Workshop on Chemical, Biochemical and Clinical Aspects of Pteridines (1999) (0)
- A study of cerebrospinal fluid neurotransmitters assay in children with undiagnosed neurological diseases in Hong Kong (2009) (0)
- Serum bile acids determined with an RA 1000 analyzer. (1985) (0)
- FIRST EXPERIENCES WITH TETRAHYDROBIOPTERIN (BH4) LOADING TEST IN PKU PATIENTS > 4 YEAR OF AGE IN THE NETHERLANDS (2010) (0)
- Co-ordinate Expression of GTP Cyclohydrolase I and Inducible Nitric Oxide Synthase in Rat Mesangial Cells (1995) (0)
- Erratum to: Phenylalanine loading in pediatric patients with dopa-responsive dystonia: revised test protocol and pediatric cutoff values (2010) (0)
- Vertical (pseudodominant) inheritance in primary hyperoxaluria type I (PH I): Discrepancy between disease phenotype and genotype. (1996) (0)
- Tetrahydrobiopterin deficiencies: an international survey of clinical and biochemical features, treatment strategies and follow-up of 626 patients (2013) (0)
- Mitral valve prolapse syndrome. (1978) (0)
- Genotype-based prediction of BH4-responsiveness in PKU patients (2009) (0)
- 176 LIVER TRANSPLANTATION (TX) STABILIZES KIDNEY FUNCTION IN ADVANCED RENAL FAILURE OF PRIMARY HYPEROXALURIA (PH) (1990) (0)
- Knowledge Base of Inborn Errors of Metabolism (IEMbase): A Practical Approach (2022) (0)
- The screening diagnosis of tetrahydrobiopterin deficient phenylketonuria (2008) (0)
- TETRAHYDROBIOPTERIN RESPONSIVENESS IN PKU: PREDICTION WITH THE 48-HOUR LOADING TEST AND GENOTYPE (2012) (0)
- Contents Vol. 94, 2000 (2001) (0)
- In Search for New Monogenic Diabetes Genes: PCBD1 (2014) (0)
- DIHYDROMONAPTERIN TRIPHOSPHATE: OCCURRENCE, ANALYSIS, AND EFFECT ON TETRAHYDROBIOPTERIN BIOSYNTHESIS in vivo AND in vitro (1987) (0)
- PREVALENCE OF VARIANTS AND GENOTYPES IN PATIENTS WITH L-AROMATIC AMINO ACID DECARBOXYLASE (AADC) DEFICIENCY (2023) (0)
- 1H-NMR studies with tetrahydrobiopterins, evidence for the structure of 6-pyruvoyltetrahydropterin, an intermediate in the biosynthesis of tetrahydrobiopterin (1987) (0)
This paper list is powered by the following services:
What Schools Are Affiliated With Nenad Blau?
Nenad Blau is affiliated with the following schools:
