A case of tetrahydrobiopterin deficiency due to a defective synthesis of dihydrobiopterin.
作者信息
Hase Y, Shintaku H, Turuhara T, Oura T, Kobashi M, Iwai K
出版信息
J Inherit Metab Dis. 1982;5(2):81-2. doi: 10.1007/BF01799997.
PMID:6820430
Abstract
摘要
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本文引用的文献
1
Phenylketonuria due to a deficiency of dihydropteridine reductase.
N Engl J Med. 1975 Oct 16;293(16):785-90. doi: 10.1056/NEJM197510162931601.
2
Biopterin derivatives in normal and phenylketonuric patients after oral loads of L-phenylalanine, L-tyrosine, and L-tryptophan.
Arch Dis Child. 1976 Oct;51(10):771-7. doi: 10.1136/adc.51.10.771.
3
Hyperphenylalaninemia due to a deficiency of biopterin. A variant form of phenylketonuria.
N Engl J Med. 1978 Sep 28;299(13):673-9. doi: 10.1056/NEJM197809282991301.
4
Atypical phenylketonuria caused by 7, 8-dihydrobiopterin synthetase deficiency.
Lancet. 1979 Jan 20;1(8108):131-3. doi: 10.1016/s0140-6736(79)90521-x.
5
New variant of phenylketonuria with progressive neurological illness unresponsive to phenylalanine restriction.
Lancet. 1975 May 17;1(7916):1108-11. doi: 10.1016/s0140-6736(75)92498-8.
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