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CASE REPORT: CblC/D defect combined with haemodynamically highly relevant VSD
Author(s) -
Tomaske M.,
Bosk A.,
Heinemann M. K.,
Sieverding L.,
Baumgartner E. R.,
Fowler B.,
Trefz F. K.
Publication year - 2001
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1023/a:1010541932476
Subject(s) - homocystinuria , methylmalonic aciduria , medicine , cardiac surgery , cardiology , pediatrics , methylmalonic acid , genetics , homocysteine , biology , methionine , amino acid
An infant with combined methylmalonic aciduria and homocystinuria (cblC/D defect) presented with significant VSD. She underwent successful cardiac surgery at 53 days.