Results 51 to 60 of about 7,812 (191)

Impaired Function of a Rare Mutation in the MMUT Gene Causes Methylmalonic Acidemia in a Chinese Patient

Genetics Research, 2022
Methylmalonic acidemia (MMA) is an autosomal recessive metabolic disorder mainly caused by mutations in the methylmalonyl coenzyme A mutase (MCM) gene (MMUT) and leads to the reduced activity of MCM.
Siyu Dai, Yanting Yang, Yaqian Li, Hongqian Liu   +3 more
doaj   +1 more source

Propionic Acidemia, Methylmalonic Acidemia, and Cobalamin C Deficiency: Comparison of Untargeted Metabolomic Profiles [PDF]

Metabolites
Giulio Catesini, Carlo Dionisi-Vici
exaly   +2 more sources

Methylmalonic Acidemia: Diagnosis and Neuroimaging Findings of This Neurometabolic Disorder (An Iranian Pediatric Case Series) [PDF]

, 2013
How To Cite This Article: Karimzadeh P, Jafari N, Jabbehdari S, Taghdiri MM, Nemati H, Saket S, Alaee MR, Ghofrani M, Tonakebni SH. Methylmalonic Acidemia: Diagnosis and Neuroimaging Findings of This Neurometabolic Disorder (An Iranian Pediatric Case ...
KARIMZADEH, Parvaneh, TONEKABONI, Seyed Hasan, NEMATI, Hamid, SHARIATMADARI, Fakhreddin, AHMADABADI, Farzad, JAFARI, Narjes, GHOFRANI, Mohammad, JABBEDARI, Sayena, ALAEE, Mohammad Reza, SAKET, Sasan, TAGHDIRI, MohammadMahdi   +10 more
core   +1 more source

Case Report: A Case of Late-Onset Combined Methylmalonic Acidemia and Hyperhomocysteinemia Induced by a Vegetarian Diet

Frontiers in Pediatrics, 2022
Methylmalonic acidemia is a rare autosomal recessive metabolic disease. However, because of the atypical clinical symptoms, the type of late-onset methylmalonic academia is often misdiagnosed.
Bei Xu, Lihong Zhang, Qiang Chen, Yajuan Wang, Yahong Peng, Hui Tang   +5 more
doaj   +1 more source

Effectiveness of instructional guidelines implementation on mothers' knowledge and practice regarding their children with methylmalonic acidemia [PDF]

, 2021
Methylmalonic Acidemia (MMA) is a group of inborn errors of metabolism (IEMs), specifically of propionate catabolism characterized by gastrointestinal and neurometabolic manifestations resulting from a deficiency in the function of methyl malonyl-CoA ...
Ayed, Manal Mohamed Ahmed, Amin, Fatma Mohamed, Mahmoud, Naglaa Fathi   +2 more
core   +1 more source

An on-line solid phase extraction procedure for the routine quantification of urinary methylmalonic acid by liquid chromatography-tandem mass spectrometry [PDF]

, 2010
Background: The goal of this study was to develop and to validate an improved isotope-dilution-liquid chromatography-tandem mass spectrometry (LC-MS/MS) method for the quantification of methylmalonic acid (MMA) in urine.
Michael Vogeser, Lorenzl, Stephan, Stephan Lorenzl, Fabian Kirchhoff, Vogeser, Michael, Kirchhoff, Fabian   +5 more
core   +1 more source

Mitochondrial Distress in Methylmalonic Acidemia: Novel Pathogenic Insights and Therapeutic Perspectives

Cells, 2022
Mitochondria are highly dynamic, double-membrane-enclosed organelles that sustain cellular metabolism and, hence, cellular, and organismal homeostasis.
Svenja Aline Keller, Alessandro Luciani
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

Generation of induced pluripotent stem cells named SMBCi019-A from a methylmalonic acidemia patient carrying the MMACHC mutations

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, Hui Zou, Yazhou Cui, Jing Wang, Zhenzhong Han, Genglin Zhang, Jinxiang Han   +6 more
doaj   +1 more source

Engineering mRNA‐LNP Medicines for the Ageing Brain: Opportunities and Challenges for Neurodegenerative Diseases

Exploration, EarlyView.
This review highlights recent advances in engineering messenger RNA (mRNA)‐lipid nanoparticles (LNPs) to cross the ageing blood–brain barrier and target neurodegenerative diseases. It outlines design principles, delivery routes, and translational challenges, charting a roadmap towards clinical application of mRNA‐LNP therapeutics for neurodegenerative ...
Abdel Ali Belaidi, Denzil L. Furtado, Francesca Alves, Rebecca M. Nisbet, Scott Ayton, Ashley I. Bush   +5 more
wiley   +1 more source