[四氢生物蝶呤部分缺乏症] - Suppr

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超能文献

[Partial deficiency of tetrahydrobiopterin].

作者信息

Rey F, Saudubray J M, Leeming R J, Niederwieser A, Curtius H C, Rey J

出版信息

Arch Fr Pediatr. 1983;40 Suppl 1:237-41.

PMID:6349574

Abstract

摘要

相似文献

[Partial deficiency of tetrahydrobiopterin].[四氢生物蝶呤部分缺乏症]

Arch Fr Pediatr. 1983;40 Suppl 1:237-41.

[Development of the biosynthesis and excretion of pterins in phenylketonuria and its variants].[苯丙酮尿症及其变异型中蝶呤的生物合成与排泄的研究进展]

Arch Fr Pediatr. 1983;40 Suppl 1:227-30.

[Biopterin synthesis defects: complete deficiencies (reductase and synthetase)].[生物蝶呤合成缺陷：完全缺乏（还原酶和合成酶）]

Arch Fr Pediatr. 1983;40 Suppl 1:231-5.

Atypical phenylketonuria caused by 7, 8-dihydrobiopterin synthetase deficiency.由7,8-二氢生物蝶呤合成酶缺乏引起的非典型苯丙酮尿症。

Lancet. 1979 Jan 20;1(8108):131-3. doi: 10.1016/s0140-6736(79)90521-x.

Screening for biopterin defects in newborns with phenylketonuria and other hyperphenylalaninemias.对苯丙酮尿症及其他高苯丙氨酸血症新生儿进行生物蝶呤缺陷筛查。

Ann Clin Lab Sci. 1982 Sep-Oct;12(5):411-4.

Pterin metabolism in normal subjects and hyperphenylalaninaemic patients.正常受试者和高苯丙氨酸血症患者的蝶呤代谢

J Inherit Metab Dis. 1981;4(2):47-8. doi: 10.1007/BF02263584.

"Peripheral" tetrahydrobiopterin deficiency with hyperphenylalaninaemia due to incomplete 6-pyruvoyl tetrahydropterin synthase deficiency or heterozygosity.由于6-丙酮酰四氢蝶呤合酶缺乏不完全或杂合性导致的伴有高苯丙氨酸血症的“外周性”四氢生物蝶呤缺乏。

Eur J Pediatr. 1987 May;146(3):228-32. doi: 10.1007/BF00716465.

Use of tetrahydropterins in the treatment of hyperphenylalaninemia due to defective synthesis of tetrahydrobiopterin: evidence that peripherally administered tetrahydropterins enter the brain.四氢蝶呤在治疗因四氢生物蝶呤合成缺陷所致高苯丙氨酸血症中的应用：外周给予的四氢蝶呤进入脑内的证据

Pediatrics. 1982 Sep;70(3):376-80.

Biosynthesis and metabolism of tetrahydrobiopterin and molybdopterin.四氢生物蝶呤和钼蝶呤的生物合成与代谢

Annu Rev Biochem. 1985;54:729-64. doi: 10.1146/annurev.bi.54.070185.003501.

Malignant phenylketonuria due to defective synthesis of dihydrobiopterin.由于二氢生物蝶呤合成缺陷导致的恶性苯丙酮尿症。

Isr J Med Sci. 1985 Jun;21(6):520-5.

引用本文的文献

Blood spots on Guthrie cards can be used for inherited tetrahydrobiopterin deficiency screening in hyperphenylalaninaemic infants.Guthrie卡片上的血斑可用于高苯丙氨酸血症婴儿的遗传性四氢生物蝶呤缺乏症筛查。

Arch Dis Child. 1984 Jan;59(1):58-61. doi: 10.1136/adc.59.1.58.

Combined tetrahydrobiopterin-phenylalanine loading test in the detection of partially defective biopterin synthesis.联合四氢生物蝶呤-苯丙氨酸负荷试验在检测部分缺陷性生物蝶呤合成中的应用

Eur J Pediatr. 1984 Jun;142(2):126-9. doi: 10.1007/BF00445592.

Neurological aspects of biopterin metabolism.生物蝶呤代谢的神经学方面。

Arch Dis Child. 1986 Feb;61(2):130-7. doi: 10.1136/adc.61.2.130.

Biopterin, neopterin and tyrosine responses to combined oral phenylalanine and tetrahydrobiopterin loading tests in two normal children and in a girl with partial biopterin deficiency.两名正常儿童及一名部分生物蝶呤缺乏女童对联合口服苯丙氨酸和四氢生物蝶呤负荷试验的生物蝶呤、新蝶呤及酪氨酸反应

J Inherit Metab Dis. 1985;8 Suppl 2:95-6. doi: 10.1007/BF01811475.

Differential diagnosis of tetrahydrobiopterin deficiency.四氢生物蝶呤缺乏症的鉴别诊断。

J Inherit Metab Dis. 1985;8 Suppl 1:34-8. doi: 10.1007/BF01800657.

Pteridines and mono-amines: relevance to neurological damage.蝶啶与单胺：与神经损伤的关联

Postgrad Med J. 1986 Feb;62(724):113-23. doi: 10.1136/pgmj.62.724.113.

Atypical cases of phenylketonuria.苯丙酮尿症的非典型病例。

Eur J Pediatr. 1987;146 Suppl 1:A38-43. doi: 10.1007/BF00442055.

Eur J Pediatr. 1987 May;146(3):228-32. doi: 10.1007/BF00716465.

Tetrahydrobiopterin deficiency: assay for 6-pyruvoyl-tetrahydropterin synthase activity in erythrocytes, and detection of patients and heterozygous carriers.四氢生物蝶呤缺乏症：红细胞中6-丙酮酰四氢蝶呤合酶活性的测定以及患者和杂合子携带者的检测

Eur J Pediatr. 1988 Jan;147(1):15-9. doi: 10.1007/BF00442604.

Atypical phenylketonuria with "dihydrobiopterin synthetase" deficiency: absence of phosphate-eliminating enzyme activity demonstrated in liver.伴有“二氢生物蝶呤合成酶”缺乏的非典型苯丙酮尿症：肝脏中磷酸消除酶活性缺失。

Eur J Pediatr. 1985 May;144(1):13-6. doi: 10.1007/BF00491917.

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