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 …
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 …
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 …
Cobalamin (Cbl) C/D deficiency: clinical, neurophysiological and neuroradiologic findings in 14 cases
R Biancheri, R Cerone, MC Schiaffino… - …, 2001 - thieme-connect.com
Inborn errors of intracellular cobalamin (Cbl) metabolism are rare disorders classified on the
basis of complementation analysis and other biochemical findings and fibroblasts assays …
basis of complementation analysis and other biochemical findings and fibroblasts assays …
Molecular mechanisms leading to three different phenotypes in the cblD defect of intracellular cobalamin metabolism
M Stucki, D Coelho, T Suormala, P Burda… - Human molecular …, 2012 - academic.oup.com
The cblD defect of intracellular vitamin B12 metabolism can lead to isolated methylmalonic
aciduria (cblD-MMA) or homocystinuria (cblD-HC), or combined methylmalonic aciduria and …
aciduria (cblD-MMA) or homocystinuria (cblD-HC), or combined methylmalonic aciduria and …
Inborn Error of Cobalamin Metabolism Associated with the Intracellular Accumulation of Transcobalamin‐Bound Cobalamin and Mutations in ZNF143, Which Codes …
M Pupavac, D Watkins, F Petrella… - Human …, 2016 - Wiley Online Library
ABSTRACT Vitamin B12 (cobalamin, Cbl) cofactors adenosylcobalamin (AdoCbl) and
methylcobalamin (MeCbl) are required for the activity of the enzymes methylmalonyl‐CoA …
methylcobalamin (MeCbl) are required for the activity of the enzymes methylmalonyl‐CoA …
Clinical and biochemical outcome after hydroxocobalamin dose escalation in a series of patients with cobalamin C deficiency
IV Matos, E Castejón, S Meavilla, M O'Callaghan… - Molecular Genetics and …, 2013 - Elsevier
Background CblC deficiency produces a combination of methylmalonic aciduria (MMA) and
homocystinuria (HCU), and is the most common error of cobalamin metabolism. Patients …
homocystinuria (HCU), and is the most common error of cobalamin metabolism. Patients …
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 …
Ocular disease in the cobalamin C defect: a review of the literature and a suggested framework for clinical surveillance
JD Weisfeld-Adams, EA McCourt, GA Diaz… - Molecular genetics and …, 2015 - Elsevier
The association between combined methylmalonic acidemia and homocystinuria of cblC
type (cobalamin C defect, cblC) and ocular disease is now well recognized, and is a …
type (cobalamin C defect, cblC) and ocular disease is now well recognized, and is a …
Clinical onset and course, response to treatment and outcome in 24 patients with the cblE or cblG remethylation defect complemented by genetic and in vitro enzyme …
M Huemer, C Bürer, P Ješina, V Kožich… - Journal of Inherited …, 2015 - Wiley Online Library
Abstract Background The cobalamin E (cblE)(MTRR, methionine synthase reductase) and
cobalamin G (cblG)(MTR, methionine synthase) defects are rare inborn errors of cobalamin …
cobalamin G (cblG)(MTR, methionine synthase) defects are rare inborn errors of cobalamin …