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Isolated 3-Methylcrotonyl-CoA Carboxylase Deficiency: Evidence for an Allele-Specific Dominant Negative Effect and Responsiveness to Biotin Therapy

✍ Scribed by Matthias R. Baumgartner; M.Fernanda Dantas; Terttu Suormala; Shlomo Almashanu; Cecilia Giunta; Dolores Friebel; Boris Gebhardt; Brian Fowler; Georg F. Hoffmann; E.Regula Baumgartner; David Valle


Book ID
117854530
Publisher
American Society of Human Genetics
Year
2004
Tongue
English
Weight
473 KB
Volume
75
Category
Article
ISSN
0002-9297

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