METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE (disorder)

Known as: COBALAMIN, DEFECT IN LYSOSOMAL RELEASE OF, VITAMIN B12 STORAGE DISEASE, Methylmalonic Acidemia and Homocystinuria, CblF Type 
 
National Institutes of Health

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2013
2013
Temperature is one of the most important environmental factors affecting the growth and survival of microorganisms and in light… (More)
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2013
2013
Abnormal neurodevelopment has been widely reported in combined methylmalonic aciduria (MMA) and homocystinuria, cblC type (cblC… (More)
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2011
2011
The cobalamin F (cblF) defect is caused by disturbed lysosomal release of cobalamin (vitamin B(12)) into the cytoplasm caused by… (More)
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2009
2009
Hyperhomocysteinemia is associated with various pathologies including cardiovascular disease, stroke, and cognitive dysfunctions… (More)
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2002
2002
Cobalamin C (cbl C) deficiency, an inherited disorder of vitamin B12 metabolism, causes elevated levels of methylmalonic acid and… (More)
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2000
2000
PURPOSE To report the association of optic atrophy with cobalamin C (cblC) disease. METHODS Descriptive case reports on three… (More)
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1999
1999
In Salmonella typhimurium, the CobU, CobS, CobT, and CobC proteins have been proposed to catalyze the late steps in… (More)
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1993
1993
Two enzymes involved in the intracellular metabolism of cobalamin have been identified and characterized: cyanocobalamin beta… (More)
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1991
1991
Cobalamin (Cbl, vitamin B12) bound to transcobalamin II (TCII) enters cultured fibroblasts by receptor-mediated endocytosis… (More)
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1971
1971
Samples of maternal and foetal blood and of human milk, cow's milk, and dried cow's milk have been analysed for cobalamins by… (More)
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