Recent advances in amino acid and organic acid metabolism.
作者信息
Leonard J V
机构信息
Biochemistry, Endocrinology and Metabolism Unit, Institute of Child Health, University College London, London, UK.
出版信息
J Inherit Metab Dis. 2007 Apr;30(2):134-8. doi: 10.1007/s10545-006-0524-4. Epub 2007 Jan 19.
PMID:17237988
Abstract
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.
摘要
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