Lack of genotype–phenotype correlations and outcome in MCAD deficiency diagnosed by newborn screening in New York State-Reference-Cited by-同舟云学术

Lack of genotype–phenotype correlations and outcome in MCAD deficiency diagnosed by newborn screening in New York State

Published:2010-03 Issue:3 Volume:99 Page:263-268
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Arnold Georgianne L.,Saavedra-Matiz Carlos A.,Galvin-Parton Patricia A.,Erbe Richard,DeVincentis Ellen,Kronn David,Mofidi Shideh,Wasserstein Melissa,Pellegrino Joan E.,Levy Paul A.,Adams Darius J.,Nichols Matthew,Caggana Michele

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference11 articles.

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2. Mitochondrial fatty acid oxidation disorders;Roe,2001

3. Spectrum of medium-chain acyl-CoA dehydrogenase deficiency detected by newborn screening;Hsu;Pediatrics,2008

4. Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: a global perspective;Rhead;J. Inherit. Metab. Dis.,2006

5. Outcome of neonatal screening for medium-chain acyl-CoA dehydrogenase deficiency in Australia: a cohort study;Wilken;Lancet,2007

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