A Common Mutation Is Associated with a Mild, Potentially Asymptomatic Phenotype in Patients with Isovaleric Acidemia Diagnosed by Newborn Screening-Reference-Cited by-同舟云学术

A Common Mutation Is Associated with a Mild, Potentially Asymptomatic Phenotype in Patients with Isovaleric Acidemia Diagnosed by Newborn Screening

Published:2004-12 Issue:6 Volume:75 Page:1136-1142
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Ensenauer Regina,Vockley Jerry,Willard Jan-Marie,Huey Joseph C.,Sass Jörn Oliver,Edland Steven D.,Burton Barbara K.,Berry Susan A.,Santer René,Grünert Sarah,Koch Hans-Georg,Marquardt Iris,Rinaldo Piero,Hahn Sihoun,Matern Dietrich

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

Reference21 articles.

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2. Isolated 2-Methylbutyrylglycinuria Caused by Short/Branched-Chain Acyl-CoA Dehydrogenase Deficiency: Identification of a New Enzyme Defect, Resolution of Its Molecular Basis, and Evidence for Distinct Acyl-CoA Dehydrogenases in Isoleucine And Valine Metabolism

3. Medium-Chain Acyl-CoA Dehydrogenase (MCAD) Mutations Identified by MS/MS-Based Prospective Screening of Newborns Differ from Those Observed in Patients with Clinical Symptoms: Identification and Characterization of a New, Prevalent Mutation That Results in Mild MCAD Deficiency*

4. Use of tandem mass spectrometry for multianalyte screening of dried blood specimens from newborns;Chace;Clin Chem,2003

5. Natural history of isovaleric acidemia (IVA);Ensenauer;J Inherit Metab Dis,2003

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