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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

Related topics

Related topics

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

Amino Acid Metabolism, Inborn Errors

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Review
2015
Review
2015
Newborn screening for homocystinurias and methylation disorders: systematic review and proposed guidelines
Newborn screening (NBS) is justified if early intervention is effective in a disorder generally not detected early in life on a… Expand
Highly Cited
2013
Highly Cited
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… Expand
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Review
2003
Review
2003
Regulation of the mitochondrial ATP-synthase in health and disease.
  • 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
Review
2003
Review
2003
Neuropsychiatric disturbances in presumed late-onset cobalamin C disease.
BACKGROUND Combined methylmalonic aciduria and homocystinuria cobalamin C type (cobalamin C disease) is an inborn metabolic… Expand
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2002
2002
Cobalamin C deficiency complicated by an atypical glomerulopathy
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 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… Expand
Review
1992
Review
1992
Cobalamin C defect associated with hemolytic-uremic syndrome.
We describe a female infant with typical features of the cobalamin C form of combined methylmalonic aciduria and homocystinuria… Expand
1986
1986
Failure of lysosomal release of vitamin B12: a new complementation group causing methylmalonic aciduria (cblF).
A patient has been described with methylmalonic aciduria because of an inability to release free vitamin B12 from lysosomes… Expand
Highly Cited
1969
Highly Cited
1969
Escherichia coli B N5-methyltetrahydrofolate-homocysteine methyltransferase: sequential formation of bound methylcobalamin with S-adenosyl-L-methionine and N5-methyltetrahydrofolate.
Abstract The reaction parameters for methyl- 14 C-cobalamin enzyme formation with methyl- 14 C-S-adenosyl- l -methionine (methyl… Expand
Highly Cited
1968
Highly Cited
1968
Escherichia coli B N5-methyltetrahydrofolate-homocysteine vitamin-B12 transmethylase: formation and photolability of a methylcobalamin enzyme.
Abstract Extensive evidence is presented that incubation of reduced Escherichia coli 13 vitamin-B 12 transmethylase with N 5… Expand
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