๐”– Bobbio Scriptorium
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Glycine andl-carnitine therapy in 3-methylcrotonyl-CoA carboxylase deficiency

โœ Scribed by S. L. Rutledge; G. T. Berry; C. A. Stanley; J. L. K. Hove; D. Millington


Publisher
Springer
Year
1995
Tongue
English
Weight
404 KB
Volume
18
Category
Article
ISSN
0141-8955

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Two Vietnamese siblings with an isolated deficiency of 3-methylcrotonyl coenzyme A carboxylase in leucocytes and cultured fibroblasts are described. Both children excreted massive amounts of 3-methylcrotonylglycine and 3-hydroxyisovaleric acid. There was no in vivo or in vitro biochemical response t