Al-Gazali, L I

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