Newborn screening for 3-methylcrotonyl-CoA carboxylase deficiency: population heterogeneity ofMCCA andMCCB mutations and impact on risk assessment-Reference-Cited by-同舟云学术

Newborn screening for 3-methylcrotonyl-CoA carboxylase deficiency: population heterogeneity ofMCCA andMCCB mutations and impact on risk assessment

Published:2006 Issue:8 Volume:27 Page:748-759
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

Stadler Sonja C.,Polanetz Roman,Maier Esther M.,Heidenreich Sylvia C.,Niederer Birgit,Mayerhofer Peter U.,Lagler Florian,Koch Hans-Georg,Santer René,Fletcher Janice M.,Ranieri Enzo,Das Anibh M.,Spiekerkötter Ute,Schwab Karl O.,Pötzsch Simone,Marquardt Iris,Hennermann Julia B.,Knerr Ina,Mercimek-Mahmutoglu Saadet,Kohlschmidt Nicolai,Liebl Bernhard,Fingerhut Ralph,Olgemöller Bernhard,Muntau Ania C.,Roscher Adelbert A.,Röschinger Wulf

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference52 articles.

1. Recommendations for a nomenclature system for human gene mutations

2. Isolated biotin-resistant deficiency of 3-methylcrotonyl-CoA carboxylase presenting as a clinically severe form in a newborn with fatal outcome

3. Isolated biotin-resistant 3-methylcrotonyl CoA carboxylase deficiency presenting with life-threatening hypoglycaemia

4. The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency

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

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