Molecular MedicineMethylmalonic acidemia (MMAemia) is an inborn error of organic acid metabolism characterized by the accumulation of toxic metabolites—including methylmalonic acid (MMA), 2-methylcitric acid (2-MCA), propionic acid (PA), homocysteine (Hcy), ammonia, and ...
Mengmeng Du +5 more
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Frontiers in EndocrinologyIntroductionThe effects of vitamin B12 metabolism on musculoskeletal health and the exact mechanism have not been fully determined. Our study aimed to assess the association of vitamin B12 and its biomarkers with musculoskeletal health in middle-aged and
Jiao Zhao, Qi Lu, Xianfeng Zhang
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Molecular mechanisms leading to three different phenotypes in the cblD defect of intracellular cobalamin metabolism [PDF]
, 2017 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 homocystinuria (cblD-MMA/HC).
Baumgartner, Matthias R. +5 more
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Archives of Pathology & Laboratory Medicine, 2001 Ronald J. Elin, William E. Winter
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External quality control of urinary methyl malonic acid quantification - announcement of a pilot study [PDF]
, 2006 Bolann +6 more
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Déficit subclinique en vitamine B12 chez les nouveau-nés [PDF]
, 2014 Background: In the past years, we diagnosed subclinical vitamin B12 deficiency in infants with hypotonia, motor delay and/or infant malaise. These infants had elevated methylmalonic acid (MMA) in plasma and urine and plasma B12 in the low normal range ...
WILD, M.
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A novel MMUT splicing variant causing mild methylmalonic acidemia phenotype
HeliyonObjectives: Methylmalonic acidemia (MMA) is a rare inborn genetic disorder that is characterized by increased levels of methylmalonic acid in blood plasma and urine.
Xinjie Zhang +9 more
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Vitamin B12 Deficiency with Pseudothrombotic Microangiopathy and Thrombotic Thrombocytopenic Purpura: Similarities and Differences [PDF]
, 2020 Buess, Charles +3 more
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Investigation of a novel intein-based Escherichia coli expression system for human methylmalonyl CoA mutase : a thesis presented to Massey University in partial fulfilment of the requirements for the degree of Master of Science in Biochemistry [PDF]
, 2005 Human methylmalonyl CoA mutase (hMCM) is a 78 kDa homodimeric mitochondrial matrix enzyme. hMCM catalyses the conversion of 2R-methylmalonyl CoA to succinyl CoA in the metabolism of propionyl groups, and requires the vitamin B12 -derived cofactor ...
Clark, Alice Rosemary
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Intakes, adequacy, food sources and biomarker status of iron, folate, and vitamin B₁₂ in Māori and non-Māori octogenarians : life and living in advanced age : a cohort study in New Zealand (LiLACS NZ) : a thesis presented in partial fulfilment of the requirements for the degree of Masters of Science in Nutrition and Dietetics, Massey University, Albany, New Zealand [PDF]
, 2017 Background: Iron, folate and vitamin B12 are the three key nutrients associated with the development of anaemia and have also been associated with the dietary patterns linked to higher malnutrition risk in older adults.
Pillay, Danika
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