一个家族中的丙酮酸脱氢酶E1α缺乏症：两名兄弟姐妹的不同临床表现。 - Suppr

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超能文献

Pyruvate dehydrogenase E1 alpha deficiency in a family: different clinical presentation in two siblings.

作者信息

De Meirleir L, Specola N, Seneca S, Lissens W

机构信息

Pediatric Neurology and Medical Genetics, AZ-VUB Brussels, Belgium.

出版信息

J Inherit Metab Dis. 1998 Jun;21(3):224-6. doi: 10.1023/a:1005347501111.

DOI:10.1023/a:1005347501111

PMID:9686362

Abstract

摘要

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Pyruvate dehydrogenase E1 alpha deficiency in a family: different clinical presentation in two siblings.一个家族中的丙酮酸脱氢酶E1α缺乏症：两名兄弟姐妹的不同临床表现。

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引用本文的文献

Manifestations of X-linked pyruvate dehydrogenase complex deficiency in female PDHA1 carriers.X 连锁丙酮酸脱氢酶复合物缺陷在女性 PDHA1 携带者中的表现。

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本文引用的文献

Mutation analysis of the pyruvate dehydrogenase E1 alpha gene in eight patients with a pyruvate dehydrogenase complex deficiency.8例丙酮酸脱氢酶复合物缺乏症患者的丙酮酸脱氢酶E1α基因的突变分析

Hum Mutat. 1996;7(1):46-51. doi: 10.1002/(SICI)1098-1004(1996)7:1<46::AID-HUMU6>3.0.CO;2-N.

E1 pyruvate dehydrogenase deficiency in a child with motor neuropathy.一名患有运动神经病的儿童的E1型丙酮酸脱氢酶缺乏症

Pediatr Res. 1993 Mar;33(3):284-8. doi: 10.1203/00006450-199303000-00016.

Mutations in the X-linked E1 alpha subunit of pyruvate dehydrogenase: exon skipping, insertion of duplicate sequence, and missense mutations leading to the deficiency of the pyruvate dehydrogenase complex.丙酮酸脱氢酶X连锁E1α亚基的突变：外显子跳跃、重复序列插入以及导致丙酮酸脱氢酶复合体缺乏的错义突变。

Am J Hum Genet. 1995 Mar;56(3):558-69.

Pyruvate dehydrogenase E1 alpha deficiency.

J Inherit Metab Dis. 1992;15(4):625-33. doi: 10.1007/BF01799619.

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