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Succinic semialdehyde dehydrogenase deficiency: clinical, biochemical and molecular characterization of a new patient with severe phenotype and a novel mutation
Author(s) -
Paola Blasi,
Francesca Palmerio,
Sara Caldarola,
Cristiano Rizzo,
Rosalba Carrozzo,
K. Michael Gibson,
Andrea Novelletto,
Federica Deodato,
Marco Cappa,
Carlo DionisiVici,
Patrizia Malaspina
Publication year - 2006
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.2006.00579.x
Subject(s) - phenotype , clinical phenotype , mutation , genetics , medicine , chemistry , biology , gene
[No abstract available