METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE (disorder)
Semantic Scholar uses AI to extract papers important to this topic.
Newborn screening (NBS) is justified if early intervention is effective in a disorder generally not detected early in life on a… Expand Temperature is one of the most important environmental factors affecting the growth and survival of microorganisms and in light… Expand In most tissues the mitochondrial ATP-synthase plays a central role by synthesizing the bulk of ATP. According to the classical… Expand BACKGROUND
Combined methylmalonic aciduria and homocystinuria cobalamin C type (cobalamin C disease) is an inborn metabolic… Expand Abstract. Cobalamin C (cbl C) deficiency, an inherited disorder of vitamin B12 metabolism, causes elevated levels of… Expand In Salmonella typhimurium, the CobU, CobS, CobT, and CobC proteins have been proposed to catalyze the late steps in… Expand We describe a female infant with typical features of the cobalamin C form of combined methylmalonic aciduria and homocystinuria… Expand A patient has been described with methylmalonic aciduria because of an inability to release free vitamin B12 from lysosomes… Expand Abstract The reaction parameters for methyl- 14 C-cobalamin enzyme formation with methyl- 14 C-S-adenosyl- l -methionine (methyl… Expand Abstract Extensive evidence is presented that incubation of reduced Escherichia coli 13 vitamin-B 12 transmethylase with N 5… Expand