Hereditary partial transcobalamin II deficiency with neurologic, mental and hematologic abnormalities in children and adults.

Abstract

BACKGROUND Transcobalamin II is a serum transport protein for vitamin B12. Small variations in TC-II affinity were recently linked to a high homocysteine level and increased frequency of neural tube defects. Complete absence of TC-II or total functional abnormality causes tissue vitamin B12 deficiency resulting in a severe disease with megaloblastic anemia… (More)

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