Title : Late onset of symptoms in an atypical patient with the cblJ inborn error of vitamin B12 metabolism: diagnosis and novel mutation revealed by exome sequencing.

Pub. Date : 2012 Dec

PMID : 23141461






1 Functional Relationships(s)
Download
Sentence
Compound Name
Protein Name
Organism
1 Inborn errors of vitamin B(12) (cobalamin) metabolism are characterized by decreased production of active cobalamin cofactors and subsequent deficiencies in the activities of methionine synthase and methylmalonyl-CoA mutase. Niacinamide 5-methyltetrahydrofolate-homocysteine methyltransferase Homo sapiens