Results 31 to 40 of about 10,813 (223)
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
Methylmalonic acidemia: Neurodevelopment and neuroimaging
Frontiers in Neuroscience, 2023 Methylmalonic acidemia (MMA) is a genetic disease of abnormal organic acid metabolism, which is one of the important factors affecting the survival rate and quality of life of newborns or infants. Early detection and diagnosis are particularly important.
Tao Chen +5 more
doaj +1 more source
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
Interaction of solid organic acids with carbon nanotube field effect transistors [PDF]
Chem. Phys. Lett. 430 (2006) 75, 2007 A series of solid organic acids were used to p-dope carbon nanotubes. The extent of doping is shown to be dependent on the pKa value of the acids. Highly fluorinated carboxylic acids and sulfonic acids are very effective in shifting the threshold voltage and making carbon nanotube field effect transistors to be more p-type devices.
arxiv +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
Case report: A late-onset cobalamin C defect first presenting as a depression in a teenager
Frontiers in Genetics, 2022 Background: The cobalamin C (cblC) defect, a common inborn disorder of cobalamin metabolism due to a genetic mutation in MMACHC, can cause combined methylmalonic acid and homocysteine accumulation in blood, urine, or both.
Siqi Cheng +6 more
doaj +1 more source
Symmetry Scheme for Amino Acid Codons [PDF]
Phys.Rev.E65, 021912 (2002), 2003 Group theoretical concepts are invoked in a specific model to explain how only twenty amino acids occur in nature out of a possible sixty four. The methods we use enable us to justify the occurrence of the recently discovered twenty first amino acid selenocysteine, and also enables us to predict the possible existence of two more, as yet undiscovered ...
arxiv +1 more source
Algorithm for the early diagnosis of vitamin B12 deficiency in elderly people
Nutrición Hospitalaria, 2013 Background: The elderly population is particularly at risk for developing vitamin B12-deficiency. Serum cobalamin does not necessarily reflect a normal B12 status. The determination of methylmalonic acid is not available in all laboratories.
Gonzalo Palacios +5 more
doaj +1 more source