Inherited disorders of vitamin B12 (cobalamin) have provided important clues to how this
vitamin, which is essential for hematological and neurological function, is transported and …

Vitamin B12 (cobalamin) is essential in animals for metabolism of branched chain amino
acids and odd chain fatty acids, and for remethylation of homocysteine to methionine. In the …

Background Vitamin B12 (cobalamin) is an essential cofactor in several metabolic pathways.
Intracellular conversion of cobalamin to its two coenzymes, adenosylcobalamin in …

Abstract Cobalamin (Cbl, vitamin B12) deficiency in humans is a cause of hematologic and
neurologic disorders. We show here that the cellular export of Cbl, in contrast to the carrier …

We previously demonstrated that ABCD4 does not localize to peroxisomes but rather, the
endoplasmic reticulum (ER), because it lacks the NH2-terminal hydrophilic region required …

To date, epimutations reported in man have been somatic and erased in germlines. Here,
we identify a cause of the autosomal recessive cblC class of inborn errors of vitamin B12 …

Abstract Vitamin B12 (cobalamin, Cbl) is required as a cofactor by two human enzymes, 5‐
methyltetrahydrofolate‐homocysteine methyltransferase (MTR) and methylmalonyl‐CoA …

Dear Editor, Cobalamin, also known as vitamin B12, can only be biosynthesized by certain
bacteria and archaea. As an essential nutrient for humans, it should be obtained from daily …

Background Inherited malabsorption of cobalamin (Cbl) causes hematological and
neurological abnormalities that can be fatal. Three genes have been implicated in Cbl …

Abstract Megaloblastic anaemia 1 (MGA1, OMIM 261100) is a rare, autosomal recessive
disorder characterized by juvenile megaloblastic anaemia, as well as neurological …