Risk stratification by residual enzyme activity after newborn screening for medium-chain acyl-CoA dehyrogenase deficiency: data from a cohort study

BACKGROUND: Since the introduction of medium-chain acyl coenzyme A dehydrogenase (MCAD) deficiency in population newborn bloodspot screening (NBS) programs, subjects have been identified with variant ACADM (gene encoding MCAD enzyme) genotypes that have never been identified in clinically ascertaine...

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Autori principali: Touw, Catharina M L, Smit, G Peter A, de Vries, Maaike, de Klerk, Johannis B C, Bosch, Annet M, Visser, Gepke, Mulder, Margot F, Rubio-Gozalbo, M Estela, Elvers, Bert, Niezen-Koning, Klary E, Wanders, Ronald J A, Waterham, Hans R, Reijngoud, Dirk-Jan, Derks, Terry G J
Natura: Artigo
Lingua:Inglês
Pubblicazione: BioMed Central 2012
Soggetti:
Research
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC3543239/
https://ncbi.nlm.nih.gov/pubmed/22630369
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1750-1172-7-30
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