MCAD-Deficiency with Severe Neonatal Onset, Fatal Outcome and Normal Acylcarnitine Profile-Reference-Cited by-同舟云学术

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MCAD-Deficiency with Severe Neonatal Onset, Fatal Outcome and Normal Acylcarnitine Profile

Published:2017-08-17 Issue:3 Volume:3 Page:21
ISSN:2409-515X
Container-title:International Journal of Neonatal Screening
language:en
Short-container-title:IJNS

Author:

Fingerhut Ralph,Joset Pascal,Rupp Niels,Girsberger Martin,Sluka Susanna,Herget Theresia,Azzarello-Burri Silvia,Rauch Anita,Baumgartner Matthias

Publisher

MDPI AG

Subject

Obstetrics and Gynaecology,Immunology and Microbiology (miscellaneous),Pediatrics, Perinatology, and Child Health

Link

http://www.mdpi.com/2409-515X/3/3/21/pdf

Reference15 articles.

1. Neonatal Screening for Medium-Chain Acyl-CoA Deficiency—Insights and Unexpected Challenges

2. Outcome of medium chain acyl-CoA dehydrogenase deficiency after diagnosis

3. Protein misfolding is the molecular mechanism underlying MCADD identified in newborn screening

4. The Domain-Specific and Temperature-Dependent Protein Misfolding Phenotype of Variant Medium-Chain acyl-CoA Dehydrogenase

5. Population spectrum ofACADMgenotypes correlated to biochemical phenotypes in newborn screening for medium-chain acyl-CoA dehydrogenase deficiency

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