about
A mutation causing DHPR deficiency results in a frameshift and a secondary splicing defect.Diseases of phenylalanine metabolism.Conversion of 6-substituted tetrahydropterins to 7-isomers via phenylalanine hydroxylase-generated intermediates.Dihydropteridine reductase deficiency in a large consanguineous Tunisian family: clinical, biochemical, and neuropathologic findings.Atypical PKU with normal phenylalanine hydroxylase and dihydropteridine reductase activity in vitro.Biopterin derivatives in normal and phenylketonuric patients after oral loads of L-phenylalanine, L-tyrosine, and L-tryptophan.
P2860
description
1975 nî lūn-bûn
@nan
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
1975年论文
@zh
1975年论文
@zh-cn
name
Letter: New forms of phenylketonuria.
@en
Letter: New forms of phenylketonuria.
@nl
type
label
Letter: New forms of phenylketonuria.
@en
Letter: New forms of phenylketonuria.
@nl
prefLabel
Letter: New forms of phenylketonuria.
@en
Letter: New forms of phenylketonuria.
@nl
P2093
P1433
P1476
Letter: New forms of phenylketonuria.
@en
P2093
K Bartholomé
S Milstien
P356
10.1016/S0140-6736(75)90806-5
P407
P577
1975-10-01T00:00:00Z