Medium chain acyl-CoA dehydrogenase deficiency detected among Hispanics by New Jersey newborn screening-Reference-Cited by-同舟云学术

Medium chain acyl-CoA dehydrogenase deficiency detected among Hispanics by New Jersey newborn screening

Published:2012-07-27 Issue:9 Volume:158A Page:2100-2105
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Anderson Sharon,Botti Christina,Li Bo,Millonig James H.,Lyon Elaine,Millson Alison,Karabin Suzanne S.M.,Brooks Susan Sklower

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.35448/fullpdf

Reference22 articles.

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2. 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;Andresen;Am J Hum Genet,2001

3. Spectrum of medium chain acyl CoA dehydrogenase (MCAD) mutations identified from newborn screening of 1.56 million infants from the UK;Andresen;Mol Genet Metab,2009

4. New MCAD gene mutation, not previously reported in other nations, found at A116G in Turkish population;Bozkurt;Am J Med Genet,2001

5. Accurate prediction of the functional significance of single nucleotide polymorphisms and mutations in the ABCA1 gene;Brunham;PLoS Genet,2005

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1. Vulnerable exons, like ACADM exon 5, are highly dependent on maintaining a correct balance between splicing enhancers and silencers;Human Mutation;2021-12-30

2. Screening of MCAD deficiency in Japan: 16years' experience of enzymatic and genetic evaluation;Molecular Genetics and Metabolism;2016-12

3. Neonatal Screening for Medium-Chain Acyl-CoA Deficiency—Insights and Unexpected Challenges;International Journal of Neonatal Screening;2015-11-23

4. Medium-Chain Acyl-CoA Deficiency: Outlines from Newborn Screening,In SilicoPredictions, and Molecular Studies;The Scientific World Journal;2013