皮尔逊综合征：三羧酸和尿素循环代谢产物改变、肾上腺功能不全及角膜混浊。 - Suppr

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超能文献

Pearson syndrome: altered tricarboxylic acid and urea-cycle metabolites, adrenal insufficiency and corneal opacities.

作者信息

Ribes A, Riudor E, Valcárel R, Salvá A, Castelló F, Murillo S, Dominguez C, Rötig A, Jakobs C

机构信息

Institut de Bioquímica Clínica, Diputació de Barcelona, Spain.

出版信息

J Inherit Metab Dis. 1993;16(3):537-40. doi: 10.1007/BF00711675.

DOI:10.1007/BF00711675

PMID:7609446

Abstract

摘要

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本文引用的文献

Citrate therapy in argininosuccinate lyase deficiency.

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Pearson's marrow-pancreas syndrome. A multisystem mitochondrial disorder in infancy.

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Organic aciduria in Pearson syndrome.

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Significance of bound glutarate in the diagnosis of glutaric aciduria type I.

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