Isolated 3-Methylcrotonyl-CoA Carboxylase Deficiency: Evidence for an Allele-Specific Dominant Negative Effect and Responsiveness to Biotin Therapy-Reference-Cited by-同舟云学术

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

Published:2004-11 Issue:5 Volume:75 Page:790-800
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

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

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics

Reference35 articles.

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2. The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency;Baumgartner;J Clin Invest,2001

3. Isolated biotin-resistant 3-methylcrotonyl-CoA carboxylase deficiency in two sibs;Beemer;Eur J Pediatr,1982

4. Human PEX7 encodes the peroxisomal PTS2 receptor and is responsible for rhizomelic chondrodysplasia punctata;Braverman;Nat Genet,1997

5. Functional analysis of MCCA and MCCB mutations causing methylcrotonylglycinuria;Desviat;Mol Genet Metab,2003

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