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Recent advances in amino acid and organic acid metabolism
Author(s) -
Leonard J. V.
Publication year - 2007
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/s10545-006-0524-4
Subject(s) - glutamine , amino acid metabolism , metabolism , mechanism (biology) , amino acid , biochemistry , organic acid , pyridoxine , chemistry , biology , philosophy , epistemology
Summary This paper focuses on the three areas in this field in which there have been advances in amino acid and organic acid metabolism. These are the description of glutamine synthetase deficiency, the elucidation of the mechanism of pyridoxine‐dependent convulsions, and a hypothesis to explain the neurological complications of some organic acidaemias.