Encyclopedia of Life Sciences 2016
DOI: 10.1002/9780470015902.a0024325
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Molecular Genetics of Hereditary Folate Malabsorption

Abstract: Hereditary folate malabsorption is a genetic disorder that results in the specific inability to absorb ingested folate in the intestine and to transport serum folate across the blood–brain barrier into the cerebrospinal fluid. Absorption of other vitamins and nutrients is unimpaired. Affected individuals come to medical attention during the first year of life with low serum and cerebrospinal folate levels, megaloblastic anaemia and immunologic and neurologic findings. The disorder is inherited as an autosomal … Show more

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