PubRank

N Blau

Author PubWeight™ 100.40‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Tetrahydrobiopterin biosynthesis, regeneration and functions. Biochem J 2000 3.91
2 Nitric oxide synthase is not a constituent of the antimicrobial armature of human mononuclear phagocytes. J Infect Dis 1993 3.75
3 Clinical and biochemical features of aromatic L-amino acid decarboxylase deficiency. Neurology 2010 1.88
4 Chronic treatment with tetrahydrobiopterin reverses endothelial dysfunction and oxidative stress in hypercholesterolaemia. Heart 2007 1.45
5 Achondrogenesis type IB is caused by mutations in the diastrophic dysplasia sulphate transporter gene. Nat Genet 1996 1.44
6 Biopterin-dependent hyperphenylalaninemia due to deficiency of 6-pyruvoyl tetrahydropterin synthase. Neurology 1991 1.43
7 The neurochemistry of phenylketonuria. Eur J Pediatr 2000 1.39
8 Pathogenesis of cognitive dysfunction in phenylketonuria: review of hypotheses. Mol Genet Metab 2010 1.38
9 Comparison of C-reactive protein and white blood cell count with differential in neonates at risk for septicaemia. Eur J Pediatr 1995 1.37
10 Mutations in the sepiapterin reductase gene cause a novel tetrahydrobiopterin-dependent monoamine-neurotransmitter deficiency without hyperphenylalaninemia. Am J Hum Genet 2001 1.32
11 Expanded motor and psychiatric phenotype in autosomal dominant Segawa syndrome due to GTP cyclohydrolase deficiency. J Neurol Neurosurg Psychiatry 2006 1.27
12 Primapterin, anapterin, and 6-oxo-primapterin, three new 7-substituted pterins identified in a patient with hyperphenylalaninemia. Biochem Biophys Res Commun 1988 1.23
13 Folate receptor autoimmunity and cerebral folate deficiency in low-functioning autism with neurological deficits. Neuropediatrics 2007 1.20
14 Phenylalanine hydroxylase-stimulating protein/pterin-4 alpha-carbinolamine dehydratase from rat and human liver. Purification, characterization, and complete amino acid sequence. J Biol Chem 1993 1.18
15 Cerebral folate deficiency with developmental delay, autism, and response to folinic acid. Neurology 2005 1.18
16 GTP cyclohydrolase I deficiency, a new enzyme defect causing hyperphenylalaninemia with neopterin, biopterin, dopamine, and serotonin deficiencies and muscular hypotonia. Eur J Pediatr 1984 1.14
17 Pediatric urolithiasis in Armenia: a study of 198 patients observed from 1991 to 1999. Pediatr Nephrol 2001 1.11
18 Monoamine oxidase inhibitors in tetrahydrobiopterin deficiency. Eur J Pediatr 1995 1.08
19 Characterization of mouse and human GTP cyclohydrolase I genes. Mutations in patients with GTP cyclohydrolase I deficiency. J Biol Chem 1995 1.06
20 Urinary oxalate excretion in urolithiasis and nephrocalcinosis. Arch Dis Child 2000 1.05
21 Effect of BH(4) supplementation on phenylalanine tolerance. J Inherit Metab Dis 2008 1.04
22 Diagnosis of dopa-responsive dystonia and other tetrahydrobiopterin disorders by the study of biopterin metabolism in fibroblasts. Clin Chem 2001 1.03
23 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. Am J Kidney Dis 1997 1.03
24 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. Neuropediatrics 2002 1.01
25 Human carbonyl and aldose reductases: new catalytic functions in tetrahydrobiopterin biosynthesis. Biochem Biophys Res Commun 1991 1.01
26 Reduced folate transport to the CNS in female Rett patients. Neurology 2003 1.00
27 Mitochondrial diseases associated with cerebral folate deficiency. Neurology 2008 0.99
28 Folate receptor autoantibodies and spinal fluid 5-methyltetrahydrofolate deficiency in Rett syndrome. Neuropediatrics 2007 0.98
29 Regulation of the L-arginine-dependent and tetrahydrobiopterin-dependent biosynthesis of nitric oxide in murine macrophages. Eur J Biochem 1993 0.98
30 Molecular heterogeneity of nonphenylketonuria hyperphenylalaninemia in 25 Danish patients. Genomics 1994 0.96
31 Regulation of 6-pyruvoyltetrahydropterin synthase activity and messenger RNA abundance in human vascular endothelial cells. Circulation 1998 0.96
32 Beneficial effects of L-serine and glycine in the management of seizures in 3-phosphoglycerate dehydrogenase deficiency. Ann Neurol 1998 0.95
33 Epidermal H(2)O(2) accumulation alters tetrahydrobiopterin (6BH4) recycling in vitiligo: identification of a general mechanism in regulation of all 6BH4-dependent processes? J Invest Dermatol 2001 0.94
34 Nitric oxide and infection: another view. Clin Infect Dis 1995 0.94
35 Hyperphenylalaninemia due to defects in tetrahydrobiopterin metabolism: molecular characterization of mutations in 6-pyruvoyl-tetrahydropterin synthase. Am J Hum Genet 1994 0.93
36 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). Am J Hum Genet 1998 0.93
37 Mutations in the GTP cyclohydrolase I and 6-pyruvoyl-tetrahydropterin synthase genes. Hum Mutat 1997 0.93
38 Positive effect of a simplified diet on blood phenylalanine control in different phenylketonuria variants, characterized by newborn BH4 loading test and PAH analysis. Mol Genet Metab 2012 0.93
39 7-substituted pterins in humans with suspected pterin-4a-carbinolamine dehydratase deficiency. Mechanism of formation via non-enzymatic transformation from 6-substituted pterins. Eur J Biochem 1992 0.92
40 Mitochondrial complex I encephalomyopathy and cerebral 5-methyltetrahydrofolate deficiency. Neuropediatrics 2007 0.92
41 Structural and functional consequences of mutations in 6-pyruvoyltetrahydropterin synthase causing hyperphenylalaninemia in humans. Phosphorylation is a requirement for in vivo activity. J Biol Chem 1995 0.91
42 Serine 19 of human 6-pyruvoyltetrahydropterin synthase is phosphorylated by cGMP protein kinase II. J Biol Chem 1999 0.91
43 Dihydropteridine reductase deficiency: physical structure of the QDPR gene, identification of two new mutations and genotype-phenotype correlations. Hum Mutat 1998 0.90
44 Evaluation of urinary acylglycines by electrospray tandem mass spectrometry in mitochondrial energy metabolism defects and organic acidurias. Mol Genet Metab 2000 0.90
45 Guanosine triphosphate cyclohydrolase I assay in human and rat liver using high-performance liquid chromatography of neopterin phosphates and guanine nucleotides. Anal Biochem 1983 0.90
46 Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency in Dutch neonates. J Inherit Metab Dis 2001 0.89
47 Phenylalanine loading as a diagnostic test for DRD: interpreting the utility of the test. Mol Genet Metab 2004 0.89
48 Dihydropteridine reductase deficiency: levodopa's long-term effectiveness without dyskinesia. Neurology 2006 0.88
49 Expression and characterization of recombinant human and rat liver 6-pyruvoyl tetrahydropterin synthase. Modified cysteine residues inhibit the enzyme activity. Eur J Biochem 1994 0.87
50 6-pyruvoyl tetrahydropterin synthase from salmon liver: amino acid sequence analysis by tandem mass spectrometry. Biochem Biophys Res Commun 1992 0.87
51 Simple rapid method for the separation and quantitative analysis of carbohydrates in biological fluids. J Chromatogr 1979 0.86
52 Mutations in the pterin-4alpha-carbinolamine dehydratase (PCBD) gene cause a benign form of hyperphenylalaninemia. Hum Genet 1998 0.86
53 Hyperphenylalaninemia and pterin metabolism in serum and erythrocytes. Clin Chim Acta 1993 0.86
54 Chromosomal localization, genomic structure and characterization of the human gene and a retropseudogene for 6-pyruvoyltetrahydropterin synthase. Eur J Biochem 1996 0.85
55 Retrovirus-mediated double transduction of the GTPCH and PTPS genes allows 6-pyruvoyltetrahydropterin synthase-deficient human fibroblasts to synthesize and release tetrahydrobiopterin. J Neurochem 1998 0.85
56 7-Substituted pterins. A new class of mammalian pteridines. J Biol Chem 1990 0.85
57 Successful treatment of phenylketonuria with tetrahydrobiopterin. Eur J Pediatr 2001 0.85
58 Tetrahydrobiopterin as another EDRF in man. Biochem Biophys Res Commun 1994 0.84
59 GTP-cyclohydrolases: a review. J Clin Chem Clin Biochem 1985 0.84
60 Interleukin 1 beta and cAMP trigger the expression of GTP cyclohydrolase I in rat renal mesangial cells. Biochem J 1996 0.83
61 Phenotypic variability, neurological outcome and genetics background of 6-pyruvoyl-tetrahydropterin synthase deficiency. Clin Genet 2009 0.83
62 Urinary saturation and nephrocalcinosis in preterm infants: effect of parenteral nutrition. Arch Dis Child 1993 0.83
63 Pharmacokinetics of orally administered tetrahydrobiopterin in patients with phenylalanine hydroxylase deficiency. J Inherit Metab Dis 2006 0.82
64 Tetrahydrobiopterin responsiveness in phenylketonuria. Two new cases and a review of molecular genetic findings. J Inherit Metab Dis 2002 0.82
65 Allosteric characteristics of GTP cyclohydrolase I from Escherichia coli. Eur J Biochem 1992 0.82
66 Severe deformity of a Palmaz-Schatz stent after normal surgical manipulation. Ann Thorac Surg 1997 0.82
67 Influence of nutrition on urinary oxalate and calcium in preterm and term infants. Pediatr Nephrol 1997 0.82
68 Differential diagnosis of hyperphenylalaninaemia by a combined phenylalanine-tetrahydrobiopterin loading test. Eur J Pediatr 1993 0.81
69 Value of the urinary stone promoters/inhibitors ratios in the estimation of the risk of urolithiasis. J Chem Inf Comput Sci 2000 0.81
70 Treatable neurotransmitter deficiency in mild phenylketonuria. Neurology 2001 0.81
71 Clinical and genetic studies in a family with a novel mutation in the sepiapterin reductase gene. Acta Neurol Scand Suppl 2014 0.81
72 Neonatal dopa-responsive extrapyramidal syndrome in twins with recessive GTPCH deficiency. Neurology 2003 0.81
73 Characterization of the human PCBD gene encoding the bifunctional protein pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor for the transcription factor HNF-1 alpha. Biochem Biophys Res Commun 1995 0.81
74 Long-term follow-up of a patient with mild tetrahydrobiopterin-responsive phenylketonuria. Mol Genet Metab 2004 0.81
75 Induction of tetrahydrobiopterin synthesis in human umbilical vein smooth muscle cells by inflammatory stimuli. Immunol Lett 1998 0.81
76 Suspected pterin-4a-carbinolamine dehydratase deficiency: hyperphenylalaninaemia due to inhibition of phenylalanine hydroxylase by tetrahydro-7-biopterin. J Inherit Metab Dis 1992 0.80
77 Spontaneous remission of Cushing's syndrome in a patient with an adrenal adenoma. J Clin Endocrinol Metab 1975 0.80
78 Massive hemopericardium in a patient with postmyocardial infarction syndrome. Chest 1977 0.80
79 Nitrite generation in interleukin-4-treated human macrophage cultures does not involve the nitric oxide synthase pathway. J Infect Dis 1997 0.80
80 Nitric oxide production depends on preceding tetrahydrobiopterin synthesis by endothelial cells: selective suppression of induced nitric oxide production by sepiapterin reductase inhibitors. Biochem Biophys Res Commun 1994 0.80
81 Reconstitution of a metabolic pathway with triple-cistronic IRES-containing retroviral vectors for correction of tetrahydrobiopterin deficiency. J Gene Med 2000 0.80
82 Child neurology: paroxysmal stiffening, upward gaze, and hypotonia: hallmarks of sepiapterin reductase deficiency. Neurology 2012 0.80
83 Neopterin in AIDs, other immunodeficiencies, and bacterial and viral infections. Klin Wochenschr 1986 0.80
84 Identification of mutations causing 6-pyruvoyl-tetrahydropterin synthase deficiency in four Italian families. Hum Mutat 1997 0.79
85 Tetrahydrobiopterin is a secretory product of murine vascular endothelial cells. Biochem Biophys Res Commun 1994 0.79
86 Axillary artery-coronary artery bypass grafting. J Thorac Cardiovasc Surg 1998 0.79
87 Purification and characterization of 6-pyruvoyl tetrahydropterin synthase from human pituitary gland. Enzyme 1992 0.79
88 Structure, genomic localization and recombinant expression of the mouse 6-pyruvoyl-tetrahydropterin synthase gene. Biol Chem 1998 0.79
89 Efficacy of oral citrate administration in primary hyperoxaluria. Nephrol Dial Transplant 1995 0.79
90 Effect of high-protein meal plus aspartame ingestion on plasma phenylalanine concentrations in obligate heterozygotes for phenylketonuria. Metabolism 1994 0.78
91 Modulation of human endothelial cell tetrahydrobiopterin synthesis by activating and deactivating cytokines: new perspectives on endothelium-derived relaxing factor. Biochem Biophys Res Commun 1993 0.78
92 Retrovirus-mediated gene transfer of 6-pyruvoyl-tetrahydropterin synthase corrects tetrahydrobiopterin deficiency in fibroblasts from hyperphenylalaninemic patients. Hum Gene Ther 1996 0.78
93 Monitoring treatment in tetrahydrobiopterin deficiency by serum prolactin. J Inherit Metab Dis 1996 0.78
94 Determination of urine saturation with computer program EQUIL 2 as a method for estimation of the risk of urolithiasis. J Chem Inf Comput Sci 1998 0.78
95 Tetrahydrobiopterin synthesis precedes nitric oxide-dependent inhibition of insulin secretion in INS-1 rat pancreatic beta-cells. Biochem Biophys Res Commun 1997 0.77
96 A novel neurodevelopmental syndrome responsive to 5-hydroxytryptophan and carbidopa. Mol Genet Metab 2001 0.77
97 Sepiapterin reductase deficiency in a 2-year-old girl with incomplete response to treatment during short-term follow-up. J Inherit Metab Dis 2009 0.77
98 Progression of 6-pyruvoyl-tetrahydropterin synthase deficiency from a peripheral into a central phenotype. J Inherit Metab Dis 1990 0.77
99 Long-term course of L-dopa-responsive dystonia caused by tyrosine hydroxylase deficiency. Neurology 2004 0.77
100 The application of 8-aminoguanosine triphosphate, a new inhibitor of GTP cyclohydrolase I, to the purification of the enzyme from human liver. Biochim Biophys Acta 1986 0.77
101 Pharmacokinetics of tetrahydrobiopterin following oral loadings with three single dosages in patients with phenylketonuria. J Inherit Metab Dis 2008 0.76
102 Novel mutation affecting the pterin-binding site of PTS gene and review of PTS mutations in Thai patients with 6-pyruvoyltetrahydropterin synthase deficiency. J Inherit Metab Dis 2009 0.76
103 Diagnostic potential of neutrophil elastase inhibitor complex in the routine care of critically ill newborn infants. Eur J Pediatr 2000 0.76
104 Hyperphenylalaninemia due to inherited deficiencies of tetrahydrobiopterin. Adv Pediatr 1989 0.76
105 Two novel genetic lesions and a common BH4-responsive mutation of the PAH gene in Italian patients with hyperphenylalaninemia. Mol Genet Metab 2002 0.75
106 Differential diagnosis of disorders of biogenic amines metabolism. Eur J Paediatr Neurol 1998 0.75
107 Molecular analysis and long-term follow-up of patients with different forms of 6-pyruvoyl-tetrahydropterin synthase deficiency. Eur J Pediatr 2001 0.75
108 Increase of GTP cyclohydrolase I activity in mononuclear blood cells by stimulation: detection of heterozygotes of GTP cyclohydrolase I deficiency. Clin Chim Acta 1985 0.75
109 GTP-cyclohydrolase and vitiligo. Lancet 1997 0.75
110 Leonine facial appearances in cluster headache patients. Headache 1992 0.75
111 Neopterin and AIDS. Clin Chem 1988 0.75
112 Mitral valve prolapse syndrome. J Oral Surg 1978 0.75
113 [Homocystinuria: case reports with a note on hyperhomocysteinemia as a risk factor for the early onset of vascular disease]. Lijec Vjesn 1995 0.75
114 Systemic tetrahydrobiopterin (BH4) levels and coronary artery disease. Cardiology 2000 0.75
115 Effect of collection and preprocessing methods on neutrophil elastase plasma concentrations. Clin Biochem 1998 0.75
116 Deprenyl in the treatment of patients with tetrahydrobiopterin deficiencies. J Inherit Metab Dis 2000 0.75
117 Tetrahydrobiopterin deficiency in Portugal: results of the screening for hyperphenylalaninemia. Adv Exp Med Biol 1993 0.75
118 Use of a ruthenium(III), iron(II), and nickel(II) hexacyanometallate-modified graphite electrode with immobilized oxalate oxidase for the determination of urinary oxalate. J AOAC Int 2001 0.75
119 Tetrahydrobiopterin and "non-responsive" dihydropteridine reductase deficiency. Lancet 1987 0.75
120 Genotype-phenotype correlation in dihydropteridine reductase deficiency. J Inherit Metab Dis 2000 0.75
121 New variant of hyperphenylalaninaemia with excretion of 7-substituted pterins. Eur J Pediatr 1988 0.75
122 Progress in the study of biosynthesis and role of 7-substituted pterins: function of pterin-4a-carbinolamine dehydratase. Adv Exp Med Biol 1993 0.75
123 Hyperphenylalaninemia caused by dihydropteridine reductase deficiency in children receiving chemotherapy for acute lymphoblastic leukemia. J Pediatr 1989 0.75
124 Human liver 6-pyruvoyl-tetrahydropterin synthase: expression of the cDNA, purification and preliminary characterization of the recombinant protein. Adv Exp Med Biol 1993 0.75
125 In vitro immunization with antigen directly blotted from SDS-polyacrylamide gels to polyvinylidene difluoride membranes. J Immunol Methods 1993 0.75
126 Tetrahydrobiopterin induced neonatal tyrosinaemia. Eur J Pediatr 1996 0.75
127 Coronary artery fistula: estimation of shunt using 99m Tc-albumin particles. Cathet Cardiovasc Diagn 1977 0.75
128 Inhalation of the nitric oxide synthase cofactor tetrahydrobiopterin in healthy volunteers. Am J Respir Crit Care Med 1997 0.75
129 Hyperprolactinemia, a tool in treatment control of tetrahydrobiopterin deficiency: endocrine studies in an affected girl. Pediatr Res 1998 0.75
130 Hyperphenylalaninaemia due to tetrahydrobiopterin deficiency: a report of 16 cases. J Inherit Metab Dis 1993 0.75
131 Hyperphenylalaninemia and 7-pterin excretion associated with mutations in 4a-hydroxy-tetrahydrobiopterin dehydratase/DCoH: analysis of enzyme activity in intestinal biopsies. Mol Genet Metab 2000 0.75
132 Possible high frequency of tetrahydrobiopterin deficiency in south Brazil. J Inherit Metab Dis 1994 0.75
133 Single-step mutation scanning of the 6-pyruvoyltetrahydropterin synthase gene in patients with hyperphenylalaninemia. Clin Chem 1999 0.75
134 A new semiautomated fluorometric method for estimation of small amounts of L-dopa in human urine. Clin Chim Acta 1977 0.75
135 7-substituted pterins: formation and occurrence. J Nutr Sci Vitaminol (Tokyo) 1992 0.75
136 A case of 6-pyruvoyl-tetrahydropterin synthase deficiency after screening 1,500,000 newborns in Greece. J Inherit Metab Dis 1991 0.75
137 Separation of low molecular weight proteins with SDS-PAGE using taurine as a new trailing ion. Gen Physiol Biophys 2001 0.75
138 [Neck muscular tension due to repetitive work]. Soz Praventivmed 1980 0.75
139 Effects of activating and deactivating cytokines on the functionally linked tetrahydrobiopterin. No pathways in vascular smooth muscle cells. Immunol Lett 1996 0.75
140 Dominant negative allele (N47D) in a compound heterozygote for a variant of 6-pyruvoyltetrahydropterin synthase deficiency causing transient hyperphenylalaninemia. Hum Mutat 1999 0.75
141 Tetrahydrobiopterin in the treatment of infantile hypertrophic pyloric stenosis. Biochem Mol Med 1997 0.75
142 Production of monoclonal antibodies against human 6-pyruvoyl tetrahydropterin synthase and immunocytochemical localization of the enzyme. Biochem Biophys Res Commun 1992 0.75
143 Guanosine triphosphate cyclohydrolase I deficiency: a rare cause of hyperphenylalaninemia. Turk J Pediatr 2000 0.75
144 Serum bile acids determined with an RA 1000 analyzer. Clin Chem 1985 0.75
145 The screening diagnosis of tetrahydrobiopterin deficient phenylketonuria. J Tongji Med Univ 1992 0.75
146 Combined phenylalanine-tetrahydrobiopterin loading test in GTP cyclohydrolase 1 deficiency. Eur J Pediatr 1994 0.75
147 Long-term plasma exchange in a case of Refsum's disease. Eur Arch Psychiatry Clin Neurosci 1991 0.75
148 A splice mutation in the GTP cyclohydrolase I gene causes dopa-responsive dystonia by exon skipping. J Inherit Metab Dis 2001 0.75