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Case Reports
. 2001 Aug;24(4):511-2.
doi: 10.1023/a:1010541932476.

CblC/D defect combined with haemodynamically highly relevant VSD

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Case Reports

CblC/D defect combined with haemodynamically highly relevant VSD

M Tomaske et al. J Inherit Metab Dis. 2001 Aug.

Abstract

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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    1. Hum Pathol. 1992 May;23(5):504-12 - PubMed
    1. Eur J Pediatr. 1998 Apr;157 Suppl 2:S77-83 - PubMed

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