先天性糖基化障碍IIa型：诊断一种畸形的先天性代谢错误的困难之处。 - Suppr

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超能文献

Congenital disorder of glycosylation IIa: the trouble with diagnosing a dysmorphic inborn error of metabolism.

作者信息

Alazami Anas M, Monies Dorota, Meyer Brian F, Alzahrani Fatema, Hashem Mais, Salih Mustafa A, Alkuraya Fowzan S

机构信息

Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

出版信息

Am J Med Genet A. 2012 Jan;158A(1):245-6. doi: 10.1002/ajmg.a.34347. Epub 2011 Nov 21.

DOI:10.1002/ajmg.a.34347

PMID:22105986

Abstract

摘要

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