Liver transplantation in two children with tyrosinaemia type I: biochemical aspects.

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作者信息

Riudor E, Ribes A, Lloret J, Friden J, Holme E, Jakobs C, Martinez Ibanez V

机构信息

Hospital Materno Infantil, Ciutat Sanitaria Vall d'Hebron, Barcelona, Spain.

出版信息

J Inherit Metab Dis. 1991;14(3):281-4. doi: 10.1007/BF01811682.

DOI:10.1007/BF01811682

PMID:1770775

Abstract

摘要

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Determination of urinary succinylacetone by capillary gas chromatography.

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The pre- and post-natal diagnosis of tyrosinemia type I and the detection of the carrier state by assay of fumarylacetoacetase.I型酪氨酸血症的产前和产后诊断以及通过测定富马酰乙酰乙酸酶检测携带者状态。

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Changing concepts: liver replacement for hereditary tyrosinemia and hepatoma.观念的转变：肝移植治疗遗传性酪氨酸血症和肝癌。

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