Causes of and diagnostic approach to methylmalonic acidurias
B Fowler, JV Leonard… - Journal of Inherited …, 2008 - Wiley Online Library
Several mutant genetic classes that cause isolated methylmalonic acidurias (MMAuria) are
known based on biochemical, enzymatic and genetic complementation analysis. The mut0 …
known based on biochemical, enzymatic and genetic complementation analysis. The mut0 …
Acquired and inherited disorders of cobalamin and folate in children
V Michael Whitehead - British journal of haematology, 2006 - Wiley Online Library
Cobalamin deficiency in the newborn usually results from cobalamin deficiency in the
mother. Megaloblastic anaemia, pancytopenia and failure to thrive can be present …
mother. Megaloblastic anaemia, pancytopenia and failure to thrive can be present …
[图书][B] Handbook of vitamins
J Zempleni, JW Suttie, JF Gregory III, PJ Stover - 2013 - books.google.com
Within the last few years, knowledge about vitamins has increased dramatically. This new
edition of a bestseller presents comprehensive summaries that analyze the chemical …
edition of a bestseller presents comprehensive summaries that analyze the chemical …
Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type
JP Lerner-Ellis, JC Tirone, PD Pawelek, C Doré… - Nature …, 2006 - nature.com
Methylmalonic aciduria and homocystinuria, cblC type (OMIM 277400), is the most common
inborn error of vitamin B12 (cobalamin) metabolism, with about 250 known cases. Affected …
inborn error of vitamin B12 (cobalamin) metabolism, with about 250 known cases. Affected …
Inborn errors of cobalamin absorption and metabolism
D Watkins, DS Rosenblatt - … Journal of Medical Genetics Part C …, 2011 - Wiley Online Library
Derivatives of cobalamin (vitamin B12) are required for activity of two enzymes in humans.
Adenosylcobalamin is required for activity of mitochondrial methylmalonylCoA mutase and …
Adenosylcobalamin is required for activity of mitochondrial methylmalonylCoA mutase and …
Identification of a putative lysosomal cobalamin exporter altered in the cblF defect of vitamin B12 metabolism
F Rutsch, S Gailus, IR Miousse, T Suormala, C Sagné… - Nature …, 2009 - nature.com
Vitamin B12 (cobalamin) is essential in animals for metabolism of branched chain amino
acids and odd chain fatty acids, and for remethylation of homocysteine to methionine. In the …
acids and odd chain fatty acids, and for remethylation of homocysteine to methionine. In the …
Gene Identification for the cblD Defect of Vitamin B12 Metabolism
D Coelho, T Suormala, M Stucki… - … England Journal of …, 2008 - Mass Medical Soc
Background Vitamin B12 (cobalamin) is an essential cofactor in several metabolic pathways.
Intracellular conversion of cobalamin to its two coenzymes, adenosylcobalamin in …
Intracellular conversion of cobalamin to its two coenzymes, adenosylcobalamin in …
Genetic disorders of vitamin B12 metabolism: eight complementation groups–eight genes
DS Froese, RA Gravel - Expert reviews in molecular medicine, 2010 - cambridge.org
Vitamin B12 (cobalamin, Cbl) is an essential nutrient in human metabolism. Genetic
diseases of vitamin B12 utilisation constitute an important fraction of inherited newborn …
diseases of vitamin B12 utilisation constitute an important fraction of inherited newborn …
Identification of the gene responsible for the cblA complementation group of vitamin B12-responsive methylmalonic acidemia based on analysis of prokaryotic gene …
CM Dobson, T Wai, D Leclerc… - Proceedings of the …, 2002 - National Acad Sciences
Vitamin B12 (cobalamin) is an essential cofactor of two enzymes, methionine synthase and
methylmalonyl-CoA mutase. The conversion of the vitamin to its coenzymes requires a …
methylmalonyl-CoA mutase. The conversion of the vitamin to its coenzymes requires a …
B12 Trafficking in Mammals: A Case for Coenzyme Escort Service
R Banerjee - ACS chemical biology, 2006 - ACS Publications
Many coenzymes are vitamins that are assimilated in mammals into their active form from
precursors obtained from the diet. They are often both rare and reactive rendering the …
precursors obtained from the diet. They are often both rare and reactive rendering the …