New variant of phenylketonuria with progressive neurological illness unresponsive to phenylalanine restriction.
about
Tetrahydrobiopterin biosynthesis, regeneration and functionsHuman dihydropteridine reductase: characterisation of a cDNA clone and its use in analysis of patients with dihydropteridine reductase deficiencyBiopterin derivatives in human body fluids and tissuesRegulation of GTP cyclohydrolase I and dihydropteridine reductase in rat pheochromocytoma PC 12 cellsValue of brain biopsy in neurodegenerative disease in childhood.The use of restriction fragment length polymorphisms in prenatal diagnosis of dihydropteridine reductase deficiencyDiseases of phenylalanine metabolism.Biopterin defect in a normal-appearing child affected by a transient phenylketonuria.Molecular genetics of phenylketonuria and its implications.Pteridines and mono-amines: relevance to neurological damage.Dihydropteridine reductase activity in dried blood spots: effects of aging and senile dementia of the Alzheimer typeGenetics of Phenylketonuria: Then and Now.Blood spots on Guthrie cards can be used for inherited tetrahydrobiopterin deficiency screening in hyperphenylalaninaemic infants.The neurological manifestations of malabsorptionDiagnosis of malignant hyperphenylalaninaemia.Biopterin derivatives in normal and phenylketonuric patients after oral loads of L-phenylalanine, L-tyrosine, and L-tryptophan.Neurological aspects of biopterin metabolism.An international survey of patients with tetrahydrobiopterin deficiencies presenting with hyperphenylalaninaemia.Rat striatal synaptosomes as a model system for studying the inhibition of dihydropteridine reductase activity.
P2860
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P2860
New variant of phenylketonuria with progressive neurological illness unresponsive to phenylalanine restriction.
description
1975 nî lūn-bûn
@nan
1975年の論文
@ja
1975年学术文章
@wuu
1975年学术文章
@zh-cn
1975年学术文章
@zh-hans
1975年学术文章
@zh-my
1975年学术文章
@zh-sg
1975年學術文章
@yue
1975年學術文章
@zh
1975年學術文章
@zh-hant
name
New variant of phenylketonuria ...... to phenylalanine restriction.
@en
New variant of phenylketonuria ...... to phenylalanine restriction.
@nl
type
label
New variant of phenylketonuria ...... to phenylalanine restriction.
@en
New variant of phenylketonuria ...... to phenylalanine restriction.
@nl
prefLabel
New variant of phenylketonuria ...... to phenylalanine restriction.
@en
New variant of phenylketonuria ...... to phenylalanine restriction.
@nl
P2093
P1433
P1476
New variant of phenylketonuria ...... to phenylalanine restriction.
@en
P2093
P304
P356
10.1016/S0140-6736(75)92498-8
P407
P577
1975-05-01T00:00:00Z