Fatty Acyl-CoA Reductase 1 Deficiency

Investigators from Erlangen, Germany; Calgary, CA; and Kafranbel, Syria, identified mutations in the gene, fatty acyl-CoA reductase 1 (FAR1) deficiency, adding to three other genes involved in plasmalogen biosynthesis, in two families affected by severe intellectual disability, early-onset epilepsy,...

وصف كامل

التفاصيل البيبلوغرافية
الحاوية / القاعدة:	Pediatric Neurology Briefs
المؤلف الرئيسي:	Charles N Swisher
التنسيق:	مقال
اللغة:	الإنجليزية
منشور في:	Pediatric Neurology Briefs Publishers 2015-01-01
الموضوعات:	peroxisomal disorder fatty acyl-coa reductase 1 developmental delay
الوصول للمادة أونلاين:	https://www.pediatricneurologybriefs.com/articles/32

مواد مشابهة

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