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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
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National Institutes of Health
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Related topics
Related topics
20 relations
Abnormal coordination
Anemia, Megaloblastic
Autosomal recessive inheritance
Byzanthine 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
2011
Review
2011
LMBRD1: the gene for the cblF defect of vitamin B12 metabolism
F. Rutsch
,
S. Gailus
,
T. Suormala
,
B. Fowler
Journal of Inherited Metabolic Disease
2011
Corpus ID: 416407
To date, only very few genetic disorders due to defects in lysosomal membrane transport are known. This paper reviews the…
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Review
2010
Review
2010
Treatment of cobalamin C (cblC) deficiency during pregnancy
C. Brunel-Guitton
,
T. Costa
,
G. Mitchell
,
M. Lambert
Journal of Inherited Metabolic Disease
2010
Corpus ID: 24611128
ObjectiveTo report the successful pregnancy of a woman with methylmalonic acidemia and hyperhomocysteinemia, cblC type [cobalamin…
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2007
2007
Comparison of the electrically evoked leg withdrawal reflex in cerebellar patients and healthy controls
T. Kolb
,
S. Lachauer
,
B. Schoch
,
M. Gerwig
,
D. Timmann
,
F. Kolb
Experimental Brain Research
2007
Corpus ID: 26067625
The aim of this study was to analyze the contribution of the cerebellum in the performance of the lower limb withdrawal reflexes…
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1995
1995
Plasma cobalamin levels affect information processing speed in a longitudinal study of HIV-1 disease.
G. Shor‐Posner
,
R. Morgan
,
F. Wilkie
,
C. Eisdorfer
,
M. Baum
Archives of Neurology
1995
Corpus ID: 11574789
OBJECTIVE To determine whether information processing speed is influenced by change in plasma cobalamin status in human…
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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.
A. Vassiliadis
,
D. Rosenblatt
,
B. Cooper
,
J. Bergeron
Experimental Cell Research
1991
Corpus ID: 6260498
1986
1986
Failure of lysosomal release of vitamin B12: a new complementation group causing methylmalonic aciduria (cblF).
D. Watkins
,
D. Rosenblatt
American Journal of Human Genetics
1986
Corpus ID: 43481241
A patient has been described with methylmalonic aciduria because of an inability to release free vitamin B12 from lysosomes…
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1974
1974
Prenatal diagnosis of methylmalonic aciduria.
D. Gompertz
,
P. Goodey
,
J. Saudubray
,
C. Charpentier
,
A. Chignolle
,
S. Girard
Pediatrics
1974
Corpus ID: 11865429
The abnormal accumulation of small molecular weight metabolites in amniotic fluid in inborn errors of metabolism is unusual and…
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1971
1971
Cobalamins in human pregnancy and lactation
I. Craft
,
And D. M. MATTHEWS
,
J. Linnell
Journal of Clinical Pathology
1971
Corpus ID: 28273531
Samples of maternal and foetal blood and of human milk, cow's milk, and dried cow's milk have been analysed for cobalamins by…
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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.
R. Taylor
,
H. Weissbach
Archives of Biochemistry and Biophysics
1969
Corpus ID: 39622209
Highly Cited
1968
Highly Cited
1968
Escherichia coli B N5-methyltetrahydrofolate-homocysteine vitamin-B12 transmethylase: formation and photolability of a methylcobalamin enzyme.
R. Taylor
,
H. Weissbach
Archives of Biochemistry and Biophysics
1968
Corpus ID: 27083567
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