Disorders of Cobalamin Metabolism
MR Baumgartner, DS Froese - … Guide to the Diagnosis, Treatment, and …, 2022 - Springer
Vitamin B12 (Cbl) is needed for just two metabolic reactions in man, the methylation of
homocysteine to methionine (cofactor methyl-Cbl) and the conversion of methylmalonyl-CoA …
homocysteine to methionine (cofactor methyl-Cbl) and the conversion of methylmalonyl-CoA …
Vitamin B12 Disorders
MR Baumgartner, B Fowler - Physician's guide to the diagnosis, treatment …, 2013 - Springer
Vitamin B 12 (Cbl) is needed for just two metabolic reactions in man, the methylation of
homocysteine to methionine (cofactor methyl-Cbl) and the conversion of methylmalonyl-CoA …
homocysteine to methionine (cofactor methyl-Cbl) and the conversion of methylmalonyl-CoA …
Inborn Errors of Cobalamin (Vitamin B12) Metabolism
RAH Surtees, JV Leonard - Inborn Metabolic Diseases: Diagnosis and …, 1990 - Springer
The absorption and intracellular utilisation of dietary cobalamin (Cbl) is complex. Inherited
disorders can occur at each step. Those affecting absorption and transport of Cbl are …
disorders can occur at each step. Those affecting absorption and transport of Cbl are …
Inherited disorders of cobalamin and folate absorption and metabolism
DS Rosenblatt, MI Shevell - Inborn Metabolic Diseases: Diagnosis and …, 1995 - Springer
Abstract Cobalamin (Cbl, vitamin B 12) is a widely distributed, cobalt-containing, water-
soluble vitamin that is not found in higher plants. Cb1 is needed for only two reactions in …
soluble vitamin that is not found in higher plants. Cb1 is needed for only two reactions in …
Disorders of cobalamin and folate transport and metabolism
D Watkins, DS Rosenblatt, B Fowler - Inborn Metabolic Diseases …, 2016 - Springer
Patients with disorders of intracellular Cbl metabolism typically have serum Cbl levels within
the reference range, although levels may be reduced in the cblF and cblJ disorders …
the reference range, although levels may be reduced in the cblF and cblJ disorders …
The clinical presentation of cobalamin‐related disorders: from acquired deficiencies to inborn errors of absorption and intracellular pathways
M Huemer, MR Baumgartner - Journal of inherited metabolic …, 2019 - Wiley Online Library
This review gives an overview of clinical characteristics, treatment and outcome of nutritional
and acquired cobalamin (Cbl; synonym: vitamin B12) deficiencies, inborn errors of Cbl …
and acquired cobalamin (Cbl; synonym: vitamin B12) deficiencies, inborn errors of Cbl …
Inherited defects of cobalamin metabolism
D Watkins, DS Rosenblatt - Vitamins and hormones, 2022 - Elsevier
Cobalamin (vitamin B 12) is required for activity of the enzymes methylmalonyl-CoA mutase
and methionine synthase in human cells. Inborn errors affecting cobalamin uptake or …
and methionine synthase in human cells. Inborn errors affecting cobalamin uptake or …
Hereditary Defect of Cobalamin Metabolism (CblG Mutation) Presenting as a Neurologic Disorder in Adulthood
R Carmel, D Watkins, SI Goodman… - New England Journal …, 1988 - Mass Medical Soc
AN increasing variety of hereditary disorders of intracellular cobalamin metabolism, usually
first detected because of the presence of methylmalonic aciduria (cblA, cblB, and cblF …
first detected because of the presence of methylmalonic aciduria (cblA, cblB, and cblF …
Disorders of cobalamin and folate transport and metabolism
DS Rosenblatt - Inborn Metabolic Diseases: Diagnosis and Treatment, 2000 - Springer
Patients with inherited disorders affecting cobalamin (Cbl) absorption or metabolism show
elevations of homocysteine or methylmalonic acid, either alone or in combination. For those …
elevations of homocysteine or methylmalonic acid, either alone or in combination. For those …
Cobalamin C defect: natural history, pathophysiology, and treatment
D Martinelli, F Deodato, C Dionisi-Vici - Journal of inherited metabolic …, 2011 - Springer
Abstract Cobalamin C (Cbl-C) defect is the most common inborn cobalamin metabolism
error; it causes impaired conversion of dietary vitamin B12 into its two metabolically active …
error; it causes impaired conversion of dietary vitamin B12 into its two metabolically active …