CblC/D缺陷合并血流动力学高度相关的室间隔缺损。
CblC/D defect combined with haemodynamically highly relevant VSD.
作者信息
Tomaske M, Bosk A, Heinemann M K, Sieverding L, Baumgartner E R, Fowler B, Trefz F K
机构信息
Department of Pediatrics I, University Hospital, Tübingen, Germany.
出版信息
J Inherit Metab Dis. 2001 Aug;24(4):511-2. doi: 10.1023/a:1010541932476.
PMID:11596656
Abstract
An infant with combined methylmalonic aciduria and homocystinuria (cblC/D defect) presented with significant VSD. She underwent successful cardiac surgery at 53 days.
摘要
一名患有甲基丙二酸尿症和高胱氨酸尿症合并症（cblC/D缺陷）的婴儿出现了显著的室间隔缺损。她在53天时接受了成功的心脏手术。
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