Published in Biochem J on January 01, 1984
Enzymic characterization of Bacillus subtilis GTP cyclohydrolase I. Evidence for a chemical dephosphorylation of dihydroneopterin triphosphate. Biochem J (1995) 0.87
Pterins inhibit nitric oxide synthase activity in rat alveolar macrophages. Br J Pharmacol (1992) 0.77
Effects of sepiapterin and 6-acetyldihydrohomopterin on the guanosine triphosphate cyclohydrolase I of mouse, rat and the fruit-fly Drosophila. Biochem J (1989) 0.75
Protein measurement with the Folin phenol reagent. J Biol Chem (1951) 1743.91
STUDIES ON THE STRUCTURE OF THE PRIMARY OXIDATION PRODUCT FORMED FROM TETRAHYDROPTERIDINES DURING PHENYLALAMINE HYDROXYLATION. J Biol Chem (1964) 1.62
Characteristics of guanosine triphosphate cyclohydrolase I purified from Escherichia coli. J Biol Chem (1976) 1.46
The biosynthesis of folic acid. 8. Purification and properties of the enzyme that catalyzes the production of formate from carbon atom 8 of guanosine triphosphate. J Biol Chem (1968) 1.40
Purification and properties of guanosine triphosphate cyclohydrolase II from Escherichia coli. J Biol Chem (1975) 1.27
Biopterin cofactor biosynthesis: independent regulation of GTP cyclohydrolase in adrenal medulla and cortex. Science (1981) 1.13
Excretion of pterins in phenylketonuria and phenylketonuria variants. Helv Paediatr Acta (1980) 1.02
Atypical phenylketonuria with defective biopterin metabolism. Monotherapy with tetrahydrobiopterin or sepiapterin, screening and study of biosynthesis in man. Eur J Pediatr (1982) 0.99
Partial purification and properties of guanosine triphosphate cyclohydrolase, the first enzyme in pteridine biosynthesis, from Comamonas sp. (ATCC 11299a). J Biol Chem (1971) 0.97
Biopterin. III. Purification and characterization of enzymes involved in the cerebral synthesis of 7,8-dihydrobiopterin. Neurochem Res (1978) 0.96
Identification of the isomer of dihydroneopterin triphosphate synthesized by two enzyme fractions from Lactobacillus plantarum. J Biol Chem (1971) 0.92
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
Presence of queuine in Drosophila melanogaster: correlation of free pool with queuosine content of tRNA and effect of mutations in pteridine metabolism. Nucleic Acids Res (1981) 0.90
Partial purification of 6-(D-erythro-1',2',3'-trihydroxypropyl)-7,8-dihydropterin triphosphate synthetase from chicken liver. J Biol Chem (1977) 0.86
A chemically prepared formamidopyrimidine derivative of guanosine triphosphate as a possible intermediate in pteridine biosynthesis. J Biol Chem (1967) 0.81
Purification of guanosine triphosphate cyclohydrolase I and dihydrofolate reductase on a dihydrofolate-Sepharose affinity column. Anal Biochem (1979) 0.81
A pteridine adsorbent for affinity chromatography. FEBS Lett (1974) 0.80
The enzymatic synthesis of Crithidia active substance(s) and a phosphorylated D-erythroneopterin from GTP or GDP by liver preparations from Syrian golden hamsters. Biochem Biophys Res Commun (1975) 0.79
Diagnosis of variants of hyperphenylalaninemia by determination of pterins in urine. Clin Chim Acta (1981) 0.78
New aspects in biopterin biosynthesis in man. FEBS Lett (1981) 0.78
[Cannabis and nifluril]. Ann Biol Clin (Paris) (2002) 2.64
Normal gastric histology in Helicobacter pylori-infected children. J Pediatr Gastroenterol Nutr (1997) 1.51
[Embryofetopathy due to valproate: a pathology only little known. Apropos of 4 cases]. Arch Pediatr (1996) 1.48
Brachmann-de Lange syndrome: pre- and postnatal findings. Am J Med Genet (1996) 1.44
[Cystinosis in the child. Semiological aspects and course in 3 cases]. Ann Pediatr (Paris) (1977) 1.40
International database of tetrahydrobiopterin deficiencies. J Inherit Metab Dis (1996) 1.38
Nutritional impact of antipseudomonas intravenous antibiotic courses in cystic fibrosis. Arch Dis Child (1997) 1.36
Primapterin, anapterin, and 6-oxo-primapterin, three new 7-substituted pterins identified in a patient with hyperphenylalaninemia. Biochem Biophys Res Commun (1988) 1.23
[Generalized hyperostosis corticalis (dominant transmission) (Worth's type)]. Arch Fr Pediatr (1972) 1.22
Economic evaluation of cost-benefit ratio of neonatal screening procedure for phenylketonuria and hypothyroidism. J Inherit Metab Dis (1991) 1.13
Prenatal diagnosis of thrombocytopenia-absent radius syndrome. Fetal Diagn Ther (1996) 1.11
Liver transplantation for ornithine transcarbamylase deficiency in a girl. J Pediatr (1989) 1.10
Apolipoprotein B metabolism in homozygous familial hypercholesterolemia. J Lipid Res (1989) 1.09
Neuropathology of citrullinaemia. Acta Neuropathol (1982) 1.09
Familial hyperinsulinism with nesidioblastosis of the pancreas: further evidence for autosomal recessive inheritance. Am J Med Genet (1989) 1.08
Structure of nine sialyl-oligosaccharides accumulated in urine of eleven patients with three different types of sialidosis. Mucolipidosis II and two new types of mucolipidosis. Eur J Biochem (1977) 1.08
Refined mapping of a gene for split hand-split foot malformation (SHFM3) on chromosome 10q25. J Med Genet (1996) 1.06
Deficit in neuraminidase associated with mucolipidosis II (I-cell disease). Biomedicine (1976) 1.02
Spectrum of phenylketonuria mutations in western Europe and north Africa, and their relation to polymorphic DNA haplotypes at the phenylalanine hydroxylase locus. Hum Genet (1991) 0.99
Evaluation of nutritional status and pathophysiology of growth retardation in patients with phenylketonuria. J Inherit Metab Dis (2003) 0.99
Tetrahydrobiopterin deficiencies: preliminary analysis from an international survey. J Pediatr (1984) 0.98
[Chemistry of urinary mannosides excreted in mannosidosis]. Biochimie (1976) 0.97
I-cell disease (mucolipidosis II):a report on its pathology. Acta Neuropathol (1975) 0.97
[A case of familial Strumpell-Lorrain disease]. J Neurol Sci (1969) 0.96
Pulmonary hypertension of the newborn and urogenital anomalies in two male siblings: a new family with misalignment of pulmonary vessels. Genet Couns (1996) 0.96
[Description of a new type of melituria, called sialuria]. Clin Chim Acta (1968) 0.94
[The tricho-rhino-phalangeal syndrome]. Arch Fr Pediatr (1970) 0.93
[Incidence of inflammatory bowel diseases in children in the Nord-Pas-de-Calais region]. Arch Fr Pediatr (1991) 0.93
Omodysplasia. Am J Med Genet (1989) 0.92
Menkes kinky-hair disease. A report on its pathology. Acta Neuropathol (1978) 0.92
Tolerance, pharmacokinetics and efficacy of once daily amikacin for treatment of Pseudomonas aeruginosa pulmonary exacerbations in cystic fibrosis patients. Eur J Pediatr (1996) 0.90
[Robinow's syndrome with dominant transmission]. Arch Fr Pediatr (1983) 0.89
Vertebral osteitis following BCG vaccination in a previously healthy child. Eur J Pediatr (1990) 0.89
Nutritional status of children with acute lymphoblastic leukemia: a longitudinal study. Am J Clin Nutr (1997) 0.89
Helicobacter pylori infection in cohabiting children. Lancet (1991) 0.88
Carbamyl-phosphate-synthetase deficiency with neonatal onset of symptoms. Acta Paediatr Scand (1977) 0.88
Intellectual and school performances in early-treated classical PKU patients. The French collaborative study. Eur J Pediatr (1987) 0.88
Blau syndrome of granulomatous arthritis, iritis, and skin rash: a new family and review of the literature. Am J Med Genet (1998) 0.88
[A familial case of eyelip ptosis with blepharophimosis and epicanthus inversus]. J Genet Hum (1974) 0.88
Hypercalcemia in infants with congenital hypothyroidism and its relation to vitamin D and thyroid hormones. J Pediatr (1986) 0.87
Improved method for the antenatal diagnosis of citrullinemia. Clin Chim Acta (1981) 0.87
Percutaneous endoscopic gastrostomy in children: influence on gastroesophageal reflux. Pediatrics (1996) 0.87
Intraoperative endoscopic diagnosis of heterotopic gastric mucosa in the ileum causing recurrent acute intussusception. J Pediatr Gastroenterol Nutr (1990) 0.87
[Mannosidosis: a simple diagnosis]. Arch Fr Pediatr (1976) 0.85
Intestinal permeability to [51Cr]EDTA in children with Crohn's disease and celiac disease. J Pediatr Gastroenterol Nutr (1988) 0.85
Letter: Nonketotic hyperglycinemia with increased propionic acid excretion and hyperammonemia. N Engl J Med (1976) 0.85
Developmental aspects of pteridine metabolism and relationships with phenylalanine metabolism. Clin Chim Acta (1981) 0.84
Structure of the three major sialyl-oligosaccharides excreted in the urine of five patients with three distinct inborn diseases: "I cell disease" and two new types of mucolipidosis. Biochim Biophys Acta (1976) 0.84
Resting energy expenditure and energy substrate utilization in children with Duchenne muscular dystrophy. Pediatr Res (1996) 0.84
Sex hormone-binding globulin in the diagnosis of peripheral tissue resistance to thyroid hormone: the value of changes after short term triiodothyronine administration. J Clin Endocrinol Metab (1988) 0.84
Primapterinuria: a new variant of atypical phenylketonuria. J Inherit Metab Dis (1989) 0.84
Urinary excretion of deuterated metabolites in patients with tyrosinemia type I after oral loading with deuterated L-tyrosine. Clin Chim Acta (1983) 0.84
[Familial case of the syndrome of ectrodactyly and mandibulo-facial dysostosis]. J Genet Hum (1974) 0.84
[Blue rubber bleb nevus syndrome. 3 cases treated with a Nd:YAG laser and bipolar electrocoagulation]. Gastroenterol Clin Biol (1990) 0.84
[Craniosynostosis (study of 20 cases)]. Arch Fr Pediatr (1967) 0.84
Influence of recombinant interferon alpha on nutritional status and growth pattern in children with chronic viral hepatitis. Eur J Pediatr (1996) 0.83
Atypical cases of phenylketonuria. Eur J Pediatr (1987) 0.83
Improvement of nutritional status in cholestatic children with supplemental nocturnal enteral nutrition. J Pediatr Gastroenterol Nutr (1991) 0.82
Intrahepatic cholestasis related to vanishing bile duct syndrome in Hodgkin's disease. J Pediatr Gastroenterol Nutr (1997) 0.82
Ocular findings in I-cell disease (mucolipidosis type II). Am J Ophthalmol (1977) 0.82
[Sialuria: an original metabolic disorder]. Helv Paediatr Acta (1968) 0.82
Letter: Pseudohypoparathyroidism. Biting insect summary. Am J Dis Child (1976) 0.82
Food-induced bleeding from lymphonodular hyperplasia of the colon. Am J Dis Child (1993) 0.82
Prenatal diagnosis of metatropic dwarfism. Prenat Diagn (1995) 0.82
[Xylose test. Correlation with small bowel histology (author's transl)]. Ann Pediatr (Paris) (1980) 0.81
Blood concentrations of pancreatitis associated protein in neonates: relevance to neonatal screening for cystic fibrosis. Arch Dis Child Fetal Neonatal Ed (1999) 0.81
[2 new cases of homocystinuria]. Lille Med (1968) 0.81
[Acute interstitial nephritis and uveitis in the adult: apropos of 3 cases]. Nephrologie (1986) 0.81
Metaphyseal acroscyphodysplasia. Clin Genet (1991) 0.81
[The GAPO syndrome (growth retardation, alopecia, pseudo-anodontia, optic atrophy). A new case report]. J Genet Hum (1988) 0.81
[Type I hyperprolinemia. Study of a familial case]. Helv Paediatr Acta (1970) 0.81
[Proceedings: Pure spondyloepiphyseal dysplasia or brachyolmia]. Arch Fr Pediatr (1975) 0.81
Chronic intestinal pseudo-obstruction associated with cytomegalovirus infection in an infant. J Pediatr Gastroenterol Nutr (1996) 0.81
Hypercholesterolemia, portacaval shunt and coronary disease. N Engl J Med (1979) 0.80
Phenylalanine analogues as inhibitors of phenylalanine-hydroxylase from rat liver. New conclusions concerning kinetic behaviors of the enzyme. Biochimie (1978) 0.80
[Attempt to treat a case of chronic familial granulomatous disease by allogenic bone marrow transplantation]. Arch Fr Pediatr (1976) 0.80
[Epidemiological data. Neonatal and prenatal screening]. Rev Pneumol Clin (1995) 0.80
[Type II mucolipidosis (I-cell disease)]. Arch Fr Pediatr (1975) 0.80
Unusual segregation of cystic fibrosis allele to males. Nature (1988) 0.80
[Congenital spondyloepiphyseal dysplasia. A case]. Pediatrie (1971) 0.80
[Treatment of type II familial hypercholesteremia through portacaval anastomosis]. Arch Fr Pediatr (1976) 0.80
2-Acetamidoglucal, a new metabolite isolated from the urine of a patient with sialuria. Biochim Biophys Acta (1979) 0.79
[Cystic fibrosis: the French neonatal screening organization, preliminary results]. Arch Pediatr (2005) 0.79
Neonatal screening for cystic fibrosis: France rises to the challenge. J Inherit Metab Dis (2003) 0.79
[Mannonidosis. Apropos of 5 cases]. Nouv Presse Med (1975) 0.79
A thyroxine dosage of 8 micrograms/kg per day is appropriate for the initial treatment of the majority of infants with congenital hypothyroidism. Eur J Pediatr (1997) 0.79
Impairment of cerebral biogenic amine synthesis in a patient receiving high-dose methotrexate. Am J Pediatr Hematol Oncol (1992) 0.79
Prognostic value of esophageal manometry in antireflux surgery in childhood. J Pediatr Gastroenterol Nutr (1994) 0.79
[Pyridoxine-dependent convulsions. Apropos of a further case]. Pediatrie (1972) 0.79
Birthweight in patients with defective biopterin metabolism. Lancet (1985) 0.78
[Details of hepatic ultrastructure in a child with sialuria (N-acetyl-neuraminic acid)]. Lille Med (1969) 0.78
Diagnosis of variants of hyperphenylalaninemia by determination of pterins in urine. Clin Chim Acta (1981) 0.78
[Cow's milk proteins intolerance disclosed by ulcero-necrotizing enterocolitis in a full-term infant]. Arch Fr Pediatr (1993) 0.78
Neonatal screening for congenital adrenal hyperplasia: a pilot study in France. J Inherit Metab Dis (1986) 0.78