کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
3086188 1189849 2010 4 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Early Onset Methylmalonic Aciduria and Homocystinuria cblC Type With Demyelinating Neuropathy
موضوعات مرتبط
علوم زیستی و بیوفناوری علم عصب شناسی علوم اعصاب تکاملی
پیش نمایش صفحه اول مقاله
Early Onset Methylmalonic Aciduria and Homocystinuria cblC Type With Demyelinating Neuropathy
چکیده انگلیسی

Methylmalonic aciduria and homocystinuria, cblC type, is the most common inborn error of vitamin B12 (cobalamin) metabolism. The recent cloning of the disease gene, MMACHC, has permitted genotype-phenotype correlation. In a 1-year-old girl, compound heterozygous c.271dupA and c.616C>T mutations in MMACHC were identified as causing an early onset methylmalonic aciduria and homocystinuria, cblC type, which was complicated by sensorimotor peripheral demyelinating neuropathy.

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Pediatric Neurology - Volume 43, Issue 2, August 2010, Pages 135–138
نویسندگان
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