甲基丙二酸血症合并高胱氨酸尿症（钴胺素CblC或CblD突变型）的产前诊断 - Suppr | 超能文献

Prenatal diagnosis of combined methylmalonic aciduria and homocystinuria (cobalamin CblC or CblD mutant).

作者信息

Chadefaux-Vekemans B, Rolland M O, Lyonnet S, Rabier D, Divry P, Kamoun P

出版信息

Prenat Diagn. 1994 May;14(5):417-8. doi: 10.1002/pd.1970140517.

DOI:10.1002/pd.1970140517

Abstract

摘要

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Combined methylmalonic acidemia and homocystinuria, cblC type. I. Clinical presentations, diagnosis and management.合并型甲基丙二酸血症合并同型胱氨酸尿症，cblC 型。一、临床表现、诊断和治疗。

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