Results 61 to 70 of about 5,085,322 (244)
Evidence of Oxidative Stress and Secondary Mitochondrial Dysfunction in Metabolic and Non-Metabolic Disorders [PDF]
, 2017 : Mitochondrial dysfunction and oxidative stress have been implicated in the pathogenesis of a number of diseases and conditions. Oxidative stress occurs once the antioxidant defenses of the body become overwhelmed and are no longer able to detoxify ...
Angermuller +25 more
core +1 more source
A Coumarin-Based Fluorescent Probe as a Central Nervous System Disease Biomarker
Sensors, 2014 Homocysteine and methylmalonic acid are important biomarkers for diseases associated with an impaired central nervous system (CNS). A new chemoassay utilizing coumarin-based fluorescent probe 1 to detect the levels of homocysteine is successfully ...
Ann-Chee Yap +4 more
doaj +1 more source
Mouse models for methylmalonic aciduria. [PDF]
PLoS ONE, 2012 Methylmalonic aciduria (MMA) is a disorder of organic acid metabolism resulting from a functional defect of methylmalonyl-CoA mutase (MCM). MMA is associated with significant morbidity and mortality, thus therapies are necessary to help improve quality ...
Heidi L Peters +5 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
Stem Cell Research, 2022 Methylmalonic acidemia(MMA) is an autosomal recessive hereditary disease caused by methylmalonyl-CoA mutase defect or its coenzyme cobalamin metabolism defect.
Jing Luan +6 more
doaj +1 more source
Inherited metabolic epilepsies–established diseases, new approaches
Epilepsia Open, EarlyView.Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley +1 more source
Long-term neurological outcome of a cohort of 80 patients with classical organic acidurias. [PDF]
, 2013 International audienceBACKGROUND: Classical organic acidurias including methylmalonic aciduria (MMA), propionic aciduria (PA) and isovaleric aciduria (IVA) are severe inborn errors of the catabolism of branched-chain amino acids and odd-numbered chain ...
Acquaviva, Cécile +13 more
core +4 more sources
Food Biomacromolecules, EarlyView.Abstract A ragi‐based probiotic camel milk drink (RPCD) had been developed employing two different probiotic bacteria, Lacticaseibacillus rhamnosus NCDC347 (RPCD‐LGG) and Limosilactobacillus fermentum NCDC141 (RPCD‐LF). The product was optimized using a two‐factor Central Composite Rotatable Design to enhance its sensory and antioxidant properties. The
Aayushi Mishra +6 more
wiley +1 more source
Proteinuria as a presenting sign of combined methylmalonic acidemia and homocysteinemia: case report
BMC Medical Genetics, 2020 Background Disorders of the metabolism and absorption of vitamin B12 can lead to decrease in activity of methionine synthetase and methylmalonate coenzyme A mutase (MMUT), which results in increased levels of methylmalonic acid and homocysteine in blood ...
Ru-Yue Chen +9 more
doaj +1 more source
Screening for Methylmalonic and Propionic Acidemia: Clinical Outcomes and Follow-Up Recommendations
International Journal of Neonatal Screening, 2022 Wisconsin’s newborn screening program implemented second-tier testing on specimens with elevated propionylcarnitine (C3) to aid in the identification of newborns with propionic and methylmalonic acidemias.
Patrice K. Held +2 more
doaj +1 more source