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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

Broader (1)

Amino Acid Metabolism, Inborn Errors

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2016
2016
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
Clinical characteristics SUCLG1-related mitochondrial DNA (mtDNA) depletion syndrome, encephalomyopathic form with methylmalonic… 
2010
2010
A Bragg-like chirped clad all-solid microstructured optical fiber with ultra-wide bandwidth for short pulse delivery and pulse reshaping
Chirped cladding is proposed as a novel tailoring tool to simultaneously attain wider transmission window and reduced temporal… 
2007
2007
Comparison of the electrically evoked leg withdrawal reflex in cerebellar patients and healthy controls
The aim of this study was to analyze the contribution of the cerebellum in the performance of the lower limb withdrawal reflexes… 
1995
1995
Plasma cobalamin levels affect information processing speed in a longitudinal study of HIV-1 disease.
OBJECTIVE To determine whether information processing speed is influenced by change in plasma cobalamin status in human… 
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.
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… 
1974
1974
Prenatal diagnosis of methylmalonic aciduria.
The abnormal accumulation of small molecular weight metabolites in amniotic fluid in inborn errors of metabolism is unusual and… 
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… 
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.
Highly Cited
1968
Highly Cited
1968
Escherichia coli B N5-methyltetrahydrofolate-homocysteine vitamin-B12 transmethylase: formation and photolability of a methylcobalamin enzyme.
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