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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Abnormal coordinationAnemia, MegaloblasticAutosomal recessive inheritanceByzanthine arch palate
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Broader (1)

Amino Acid Metabolism, Inborn Errors

Papers overview

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2013
2013
Chlamydomonas reinhardtii thermal tolerance enhancement mediated by a mutualistic interaction with vitamin B12-producing bacteria
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
Neurologic and neurodevelopmental phenotypes in young children with early-treated combined methylmalonic acidemia and homocystinuria, cobalamin C type.
Abnormal neurodevelopment has been widely reported in combined methylmalonic aciduria (MMA) and homocystinuria, cblC type (cblC… (More)
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2011
2011
Cobalamin F disease detected by newborn screening and follow-up on a 14-year-old patient.
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
The activity of erythrocyte and brain Na+/K+ and Mg2+-ATPases in rats subjected to acute homocysteine and homocysteine thiolactone administration
Hyperhomocysteinemia is associated with various pathologies including cardiovascular disease, stroke, and cognitive dysfunctions… (More)
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2002
2002
Cobalamin C deficiency complicated by an atypical glomerulopathy
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
Optic atrophy in association with cobalamin C (cblC) disease.
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 vitro synthesis of the nucleotide loop of cobalamin by Salmonella typhimurium enzymes.
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
Identification and characterization of two enzymes involved in the intracellular metabolism of cobalamin. Cyanocobalamin beta-ligand transferase and microsomal cob(III)alamin reductase.
Two enzymes involved in the intracellular metabolism of cobalamin have been identified and characterized: cyanocobalamin beta… (More)
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1991
1991
Lysosomal cobalamin accumulation in fibroblasts from a patient with an inborn error of cobalamin metabolism (cblF complementation group): visualization by electron microscope radioautography.
Cobalamin (Cbl, vitamin B12) bound to transcobalamin II (TCII) enters cultured fibroblasts by receptor-mediated endocytosis… (More)
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1971
1971
Cobalamins in human pregnancy and lactation.
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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