Results 41 to 50 of about 5,085,322 (244)
In vivo assignment of methylmalonic acid in breast tissue using 2D MRS and relationship with breast density, menopausal status and cancer risk. [PDF]
NMR Biomed, 2023 Santamaría G +7 more
europepmc +3 more sources
Frontiers in Neurology, 2023 IntroductionCobalamin C (cblC) deficiency is a rare hereditary disorder affecting intracellular cobalamin metabolism, primarily caused by mutations in MMACHC.
Qihua Chen +3 more
doaj +1 more source
Diagnosis of Methyl Malonicaciduria from 2013 to 2018
Revista Finlay, 2020 Foundation: methylmalonic aciduria is one of the most frequent organic acidurias and groups together a set of genetic defects, characterized by the excretion of elevated levels of urinemethyl malonic acid.
Alina Concepción Álvarez +5 more
doaj +2 more sources
Homocysteine as a potential biochemical marker for depression in elderly stroke survivors
Food & Nutrition Research, 2012 Background: Elderly stroke survivors have been reported to be at risk of malnutrition and depression. Vitamin B-related metabolites such as methylmalonic acid and homocysteine have been implicated in depression.
Michaela C. Pascoe +5 more
doaj +1 more source
Orphanet Journal of Rare Diseases, 2021 Background Propionic acidemia (PA) and methylmalonic acidemia (MMA) are rare, autosomal recessive inborn errors of metabolism that require life-long medical treatment.
M. Alfadhel +19 more
semanticscholar +1 more source
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 ...
Baumgartner, M R +7 more
core +1 more source
Vitamin B12 Deficiency (Un-)Detected Using Newborn Screening in Norway
International Journal of Neonatal Screening, 2023 Untreated vitamin B12 (B12) deficiency may cause delayed development in infants. Several newborn screening (NBS) programs have reported an increased detection rate of B12 deficiency when second-tier dried blood spot (DBS) analyses of total homocysteine ...
Trine Tangeraas +8 more
doaj +1 more source
Global Burden Related to Nitrous Oxide Exposure in Medical and Recreational Settings: A Systematic Review and Individual Patient Data Meta-Analysis. [PDF]
, 2019 The risk of adverse effects of nitrous oxide (N2O) exposure is insufficiently recognized despite its widespread use. These effects are mainly reported through case reports. We conducted an individual patient data meta-analysis to assess the prevalence of
Filhine-Tresarrieu, Pierre +10 more
core +3 more sources
Pulmonary hypertension in late-onset Methylmalonic Aciduria and Homocystinemia: a case report
BMC Pediatrics, 2020 Background Methylmalonic Aciduria and Homocystinemia, cobalamin C (cblC) is an inherited disease of vitamin B12 metabolism with a wide spectrum of clinical manifestations.
Ling-yi Wen, Ying-kun Guo, Xiao-qing Shi
doaj +1 more source
Molecular Genetics and Metabolism Reports, 2020 Introduction: Methylmalonic Aciduria (MMA) is a heterogeneous group of rare diseases leading to accumulation of methylmalonic acid in body fluids. One of the causes of the disease is the methylmalonic aciduria, cblA type (cblA – type MMA), conditioned by
Dorota Wesół-Kucharska +8 more
doaj +1 more source