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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

Papers overview

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Highly Cited
2013
Highly Cited
2013
Temperature is one of the most important environmental factors affecting the growth and survival of microorganisms and in light… Expand
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2013
2013
Abnormal neurodevelopment has been widely reported in combined methylmalonic aciduria (MMA) and homocystinuria, cblC type (cblC… Expand
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2009
2009
Hyperhomocysteinemia is associated with various pathologies including cardiovascular disease, stroke, and cognitive dysfunctions… Expand
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Review
2003
Review
2003
  • A. Das
  • Molecular genetics and metabolism
  • 2003
  • Corpus ID: 30431157
In most tissues the mitochondrial ATP-synthase plays a central role by synthesizing the bulk of ATP. According to the classical… Expand
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2002
2002
Abstract. Cobalamin C (cbl C) deficiency, an inherited disorder of vitamin B12 metabolism, causes elevated levels of… Expand
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Highly Cited
1999
Highly Cited
1999
In Salmonella typhimurium, the CobU, CobS, CobT, and CobC proteins have been proposed to catalyze the late steps in… Expand
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1993
1993
  • E. Pezacka
  • Biochimica et biophysica acta
  • 1993
  • Corpus ID: 25638272
Two enzymes involved in the intracellular metabolism of cobalamin have been identified and characterized: cyanocobalamin beta… Expand
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1986
1986
A patient has been described with methylmalonic aciduria because of an inability to release free vitamin B12 from lysosomes… Expand
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Highly Cited
1969
Highly Cited
1969
Abstract The reaction parameters for methyl- 14 C-cobalamin enzyme formation with methyl- 14 C-S-adenosyl- l -methionine (methyl… Expand
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Highly Cited
1968
Highly Cited
1968
Abstract Extensive evidence is presented that incubation of reduced Escherichia coli 13 vitamin-B 12 transmethylase with N 5… Expand
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