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Maple syrup urine disease 1954 to 1993
Author(s) -
Peinemann F.,
Danner D. J.
Publication year - 1994
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 - 10.1007/bf00735389
Subject(s) - maple syrup urine disease , urine , maple , lactate dehydrogenase , metabolic disease , human genetics , medicine , l lactate dehydrogenase , disease , biochemistry , chemistry , biology , enzyme , amino acid , gene , botany , leucine
Summary The clinical, molecular genetic and other biochemical aspects of branched‐chain α‐ketoacid dehydrogenase defects are reviewed.