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The role of molecular testing and enzyme analysis in the management of hypomorphic citrullinemia
Author(s) -
Dimmock David P.,
Trapane Pamela,
Feigenbaum Annette,
Keegan Catherine E.,
Cederbaum Stephen,
Gibson James,
Gambello Michael J.,
Vaux Keith,
Ward Patricia,
O'Brien William E.,
Fang Ping
Publication year - 2010
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.33256
Subject(s) - citrullinemia , biology , genetics , urea cycle , amino acid , arginine