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...

وصف كامل

محفوظ في:
التفاصيل البيبلوغرافية
المؤلفون الرئيسيون: 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
التنسيق: Artigo
اللغة:Inglês
منشور في: BioMed Central 2012
الموضوعات:
Research
الوصول للمادة أونلاين: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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