Medium chain acyl-CoA dehydrogenase deficiency: Human genome epidemiology review-Reference-Cited by-同舟云学术

Medium chain acyl-CoA dehydrogenase deficiency: Human genome epidemiology review

Published:1999-11 Issue:7 Volume:1 Page:332-339
ISSN:1098-3600
Container-title:Genetics in Medicine
language:en
Short-container-title:Genetics in Medicine

Author:

Wang Sophia S.,Fernhoff Paul M.,Hannon W. Harry,Khoury Muin J.

Publisher

Elsevier BV

Subject

Genetics (clinical)

Reference43 articles.

1. Molecular diagnosis and characterization of medium-chain acyl-CoA dehydrogenase deficiency;Andresen;Scand J Clin Lab Invest,1995

2. OMIM (Online Mendelian Inheritance in Man) Baltimore. Johns Hopkins University, Center for Medical Genetics, 1998. http://www3.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?201450

3. Newborn screening for inborn errors of metabolism: A systematic review;Seymour;Health Technol Assess,1997

4. Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: The prevalent mutation G985 (K304E) is subject to a strong founder effect from Northwestern Europe;Gregersen;Hum Hered,1993

5. Medium chain acyl-CoA dehydrogenase deficiency in Pennsylvania: Neonatal screening shows high incidence and unexpected mutation frequencies;Ziadeh;Pediatr Res,1995

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