Cells, 2020 Cobalamin deficiency affects human physiology with sequelae ranging from mild fatigue to severe neuropsychiatric abnormalities. The cellular and molecular aspects of the nervous system disorders associated with hypovitaminosis B12 remain largely unknown.
Zuzanna Rzepka +8 more
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FEBS Open Bio, 2014 In this study, we showed that cyanocobalamin dodecylamine, a ribose 5′-carbamate derivative of cyanocobalamin, was absorbed and accumulated to significant levels by Caenorhabditis elegans and was not further metabolized.
Tomohiro Bito +4 more
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Kidney-Limited Microangiopathy Associated with Methionine Synthase (Cobalamin G) Deficiency in a Pediatric Patient: Case Report and Review of the Literature [PDF]
Glomerular DiseasesThrombotic microangiopathy (TMA) is a recognized sequela of inborn errors of metabolism impacting vitamin B12 (cobalamin) synthesis. Methylmalonic aciduria and homocystinuria, cobalamin deficiency type C is a well-known etiology for TMA.
Jonathan E. Zuckerman +1 more
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Dementia, diarrhea, desquamating shellac-like dermatitis revealing late-onset cobalamin C deficiency [PDF]
JAAD Case Reports, 2018 Robert Christopher Gilson, BS +3 more
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Cobalamin C deficiency: a rare but treatable genetic cause of pulmonary hypertension [PDF]
Orphanet Journal of Rare DiseasesJulien Grynblat +2 more
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Gene identification for the cblD defect of vitamin B12 metabolism [PDF]
, 2008 Background Vitamin B12 (cobalamin) is an essential cofactor in several metabolic pathways. Intracellular conversion of cobalamin to its two coenzymes, adenosylcobalamin in mitochondria and methylcobalamin in the cytoplasm, is necessary for the ...
Rosenblatt, D S +6 more
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The Intestinal Microbiome in Dogs with Chronic Enteropathies and Cobalamin Deficiency or Normocobalaminemia—A Comparative Study [PDF]
, 2023 Cobalamin deficiency is a common sequela of chronic enteropathies (CE) in dogs. Studies comparing the intestinal microbiome of CE dogs with cobalamin deficiency to those that are normocobalaminemic are lacking.
Pilla R. +6 more
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Case Report: Membranous Nephropathy Secondary to Cobalamin C Disease
Frontiers in Medicine, 2022 BackgroundMutation of MMACHC causes inherited cobalamin C disease with methylmalonic academia (MMA) and homocysteinemia. Renal complications may also be present in patients with this deficiency.
Qiang Wang +5 more
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Biology, 2021 The most important biological function of vitamin B12 is to accomplish DNA synthesis, which is necessary for cell division. Cobalamin deficiency may be especially acute for rapidly dividing cells, such as glioblastoma cells.
Zuzanna Rzepka +7 more
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Correction: Case presentation: a severe case of cobalamin c deficiency presenting with nephrotic syndrome, malignant hypertension and hemolytic anemia [PDF]
BMC NephrologyHalil Tuna Akar +5 more
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