Phenylketonuria due to a deficiency of dihydropteridine reductase
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Structure and expression of human dihydropteridine reductaseMolecular and immunological comparison of human dihydropteridine reductase in liver, cultured fibroblasts and continuous lymphoid cellsHuman dihydropteridine reductase: characterisation of a cDNA clone and its use in analysis of patients with dihydropteridine reductase deficiencyCharacterization of the wild-type form of 4a-carbinolamine dehydratase and two naturally occurring mutants associated with hyperphenylalaninemiaBiogenic amine synthesis defect in dihydropteridine reductase deficiencyRegulation of GTP cyclohydrolase I and dihydropteridine reductase in rat pheochromocytoma PC 12 cellsCrystal structure of rat liver dihydropteridine reductaseProtein stability and in vivo concentration of missense mutations in phenylalanine hydroxylase.Biogenic amine metabolism in juvenile neurocardiogenic syncope with dysautonomia.The use of restriction fragment length polymorphisms in prenatal diagnosis of dihydropteridine reductase deficiencyMolecular genetics of human chromosome 4.Mouse models of human phenylketonuria.Food intolerance in humansDiseases of phenylalanine metabolism.A research framework for evaluating the promotion of mental health and prevention of mental illness.Dynamic regulation of phenylalanine hydroxylase by simulated redox manipulationCerebrospinal fluid biogenic amines and biopterin in Rett syndrome.Biopterin synthesis defect. Treatment with L-dopa and 5-hydroxytryptophan compared with therapy with a tetrahydropterin.Sapropterin dihydrochloride, 6-R-L-erythro-5,6,7,8-tetrahydrobiopterin, in the treatment of phenylketonuria.Tetrahydrobiopterin therapy of atypical phenylketonuria due to defective dihydrobiopterin biosynthesis.Differential expression of arc mRNA and other plasticity-related genes induced by nicotine in adolescent rat forebrainMolecular genetics of phenylketonuria and its implications.Structural and mechanistic characteristics of dihydropteridine reductase: a member of the Tyr-(Xaa)3-Lys-containing family of reductases and dehydrogenases.GCH1, BH4 and painPhenylketonuric Tetrahymena: phenylalanine hydroxylase mutants and other tyrosine auxotrophs.CFS hydroxylase cofactor levels in some neurological diseasesDihydropteridine reductase activity in dried blood spots: effects of aging and senile dementia of the Alzheimer typeLC-MS/MS Analysis of Cerebrospinal Fluid Metabolites in the Pterin Biosynthetic Pathway.Conversion of 6-substituted tetrahydropterins to 7-isomers via phenylalanine hydroxylase-generated intermediates.Blood spots on Guthrie cards can be used for inherited tetrahydrobiopterin deficiency screening in hyperphenylalaninaemic infants.Analysis of the effect of tetrahydrobiopterin on PAH gene expression in hepatoma cells.Mental retardation: genetic findings, clinical implications and research agenda.Tetrahydrobiopterin in antenatal brain hypoxia-ischemia-induced motor impairments and cerebral palsy.Induction of pterin synthesis is not required for cytokine-stimulated tryptophan metabolism.Phenylketonuria and its variants: observations on intellectual functioning.Diagnosis of malignant hyperphenylalaninaemia.Cortical dysgenesis in a variant of phenylketonuria (dihydropteridine reductase deficiency).Respiratory function after repair of congenital diaphragmatic hernia.Inhibition of dihydropteridine reductase by dopamine.Biopterin derivatives in normal and phenylketonuric patients after oral loads of L-phenylalanine, L-tyrosine, and L-tryptophan.
P2860
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P2860
Phenylketonuria due to a deficiency of dihydropteridine reductase
description
1975 nî lūn-bûn
@nan
1975 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1975 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
1975年の論文
@ja
1975年論文
@yue
1975年論文
@zh-hant
1975年論文
@zh-hk
1975年論文
@zh-mo
1975年論文
@zh-tw
1975年论文
@wuu
name
Phenylketonuria due to a deficiency of dihydropteridine reductase
@ast
Phenylketonuria due to a deficiency of dihydropteridine reductase
@en
Phenylketonuria due to a deficiency of dihydropteridine reductase
@nl
type
label
Phenylketonuria due to a deficiency of dihydropteridine reductase
@ast
Phenylketonuria due to a deficiency of dihydropteridine reductase
@en
Phenylketonuria due to a deficiency of dihydropteridine reductase
@nl
prefLabel
Phenylketonuria due to a deficiency of dihydropteridine reductase
@ast
Phenylketonuria due to a deficiency of dihydropteridine reductase
@en
Phenylketonuria due to a deficiency of dihydropteridine reductase
@nl
P2093
P1476
Phenylketonuria due to a deficiency of dihydropteridine reductase
@en
P2093
A Krumholz
L J Butler
N A Holtzman
S Milstien
P304
P356
10.1056/NEJM197510162931601
P407
P577
1975-10-16T00:00:00Z