Article
Abnormal folate metabolism and genetic polymorphism of the folate pathway in a child with Down syndrome and neural tube defect.
American journal of medical genetics - 1 Oct 2001
Al-Gazali L I, Padmanabhan R, Melnyk S, Yi P, Pogribny I P, Pogribna M, Bakir M, Hamid Z A, Abdulrazzaq Y, Dawodu A, James S J
Abstract excerpt
The association of neural tube defects (NTDs) with Down syndrome (trisomy 21) and altered folate metabolism in both mother and affected offspring provide a unique opportunity for insight into the etiologic role of folate deficiency in these congenital anomalies. We describe here the case of a male child with trisomy 21, cervical meningomyelocele, agenesis of corpus callosum, hydrocephaly, cerebellar herniation...
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