Chronic tyrosinemia associated with 4-hydroxyphenylpyruvate dioxygenase deficiency with acute intermittent ataxia and without visceral and bone involvement.

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作者信息

Giardini O, Cantani A, Kennaway N G, D'Eufemia P

出版信息

Pediatr Res. 1983 Jan;17(1):25-9. doi: 10.1203/00006450-198301000-00005.

DOI:10.1203/00006450-198301000-00005

PMID:6132360

Abstract

摘要

相似文献

Chronic tyrosinemia associated with 4-hydroxyphenylpyruvate dioxygenase deficiency with acute intermittent ataxia and without visceral and bone involvement.

Pediatr Res. 1983 Jan;17(1):25-9. doi: 10.1203/00006450-198301000-00005.

A new variant form of hypertyrosinaemia due to 4-hydroxyphenylpyruvic acid oxidase deficiency.一种由于4-羟基苯丙酮酸氧化酶缺乏导致的新型高酪氨酸血症变异型。

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[Hereditary tyrosinemia: examination of the liver by electron microscopy of hepatic biopsies: observation of 7 cases].[遗传性酪氨酸血症：通过肝活检组织电镜检查肝脏：7例观察]

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Four-hydroxyphenylpyruvic acid oxidase deficiency with normal fumarylacetoacetase: a new variant form of hereditary hypertyrosinemia.富马酰乙酰乙酸酶正常的对羟基苯丙酮酸氧化酶缺乏症：遗传性高酪氨酸血症的一种新变异形式

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Development of tyrosine aminotransferase and para-hydroxyphenylpyruvate dioxygenase activities in fetal and neonatal human liver.胎儿及新生儿肝脏中酪氨酸转氨酶和对羟基苯丙酮酸双加氧酶活性的发育

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[Association, in the same subject, of deletion of the short arm of chromosome 4 (4p-) and of complete deficiency of parahydroxyphenyl-pyruvate oxidase activity in the liver (tyrosinosis)].[同一患者中，4号染色体短臂缺失（4p-）与肝脏对羟基苯丙酮酸氧化酶活性完全缺乏（酪氨酸血症）的关联]

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Urinary p-tyramine in hereditary tyrosinemia: I. Levels as compared to normal individuals, effect of diet, and relationship to urinary tyrosine.

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Excretion of cis- and trans-4-hydroxycyclohexylacetic acid in addition to hawkinsin in a family with a postulated defect of 4-hydroxyphenylpyruvate dioxygenase.在一个推测存在4-羟基苯丙酮酸双加氧酶缺陷的家族中，除了hawkinsin外，顺式和反式4-羟基环己基乙酸的排泄情况

Clin Chim Acta. 1978 Dec 1;90(2):195-200. doi: 10.1016/0009-8981(78)90522-3.

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