We describe two patients with methylmalonic aciduria and homocystinuria (Cbl C). The
disorder was not diagnosed in patient 1 until 41/2 years of age; he had a history of fatigue …

Methylmalonic aciduria and homocystinuria, cblC type (MIM 277400), is the most frequent
inborn error of vitamin B12 (cobalamin, Cbl) metabolism, caused by an inability of the cell to …

We report on the case of a 36‐year‐old Hispanic woman with a spinal cord infarct, who was
subsequently diagnosed with methylmalonic aciduria and homocystinuria, cblC type (cblC) …

Methylmalonic aciduria and homocystinuria, cblC type (OMIM 277400), is the most common
inborn error of vitamin B12 (cobalamin) metabolism, with about 250 known cases. Affected …

INTRODUCTION: Combined methylmalonic aciduria and homocystinuria, cobalamin C
(cblC) type, is an inherited disorder of vitamin B12 metabolism caused by mutations in …

The long‐term outcome of patients with methylmalonic aciduria (MMA) is still uncertain due
to a high frequency of complications such as chronic renal failure and metabolic stroke. The …

Congenital methylmalonic aciduria-homocystinuria, a disorder with an incompletely defined
cobalamin abnormality, has not been accompanied by megaloblastosis in most of the …

Objective: To compare the therapeutic effectiveness of hydroxocobalamin and
cyanocobalamin in patients with combined methylmalonic acidemia and homocystinuria …

Several mutant genetic classes that cause isolated methylmalonic acidurias (MMAuria) are
known based on biochemical, enzymatic and genetic complementation analysis. The mut0 …

The most common inborn error of cobalamin (cbl) metabolism in China is the cblC type
characterized by combined methylmalonic acidemia and hyperhomocysteinemia. The …