CASE REPORT: CblC/D defect combined with haemodynamically highly relevant VSD

M. Tomaske, A. Bosk, M. K. Heinemann,L. Sieverding,E. R. Baumgartner, B. Fowler,F. K. Trefz

Journal of Inherited Metabolic Disease（2001）

引用 11|浏览5

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摘要

An infant with combined methylmalonic aciduria and homocystinuria (cblC/D defect) presented with significant VSD. She underwent successful cardiac surgery at 53 days.

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关键词

Public Health,Internal Medicine,Methylmalonic,Homocystinuria,Methylmalonic Aciduria

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