Abnormal folate metabolism and genetic polymorphism of the folate pathway in a child with Down syndrome and neural tube defect. [electronic resource]
- American journal of medical genetics Oct 2001
- 128-32 p. digital
Publication Type: Case Reports; Journal Article
0148-7299
10.1002/ajmg.1509 doi
Amino Acids, Sulfur--blood Consanguinity DNA--genetics DNA Methylation Down Syndrome--enzymology Folic Acid--metabolism Genotype Humans Infant Male Methylenetetrahydrofolate Reductase (NADPH2) Mutation Neural Tube Defects--enzymology Oxidoreductases Acting on CH-NH Group Donors--genetics Polymorphism, Genetic