Results 81 to 90 of about 10,813 (223)
JIMD Reports, Volume 66, Issue 3, May 2025.ABSTRACT In this report, we present the case of a 16‐month‐old patient who was diagnosed with cobalamin G deficiency at 4 months of age via whole exome sequencing by detecting compound heterozygous variants of uncertain significance (VUS) in the MTR gene: (1) c.1283T>A, p.Met428Lys; (2) c.2411T>C, p.Ile804Thr. Before the diagnosis, the initial clinical
Chi‐Tang Wu +3 more
wiley +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
Modeling of the formation of short-chain acids in propane flames [PDF]
arXiv, 2009 In order to better understand their potential formation in combustion systems, a detailed kinetic mechanism for the formation of short-chain monocarboxylic acids, formic (HCOOH), acetic (CH3COOH), propionic (C2H5COOH) and propenic (C2H3COOH)) acids, has been developed. Simulations of lean (equivalence ratios from 0.9 to 0.48) laminar premixed flames of
arxiv
Discovery Of Copper Catalyst For New Chemical Polishing Acid On Superconducting Niobium [PDF]
arXiv, 2020 High field Q-slope (HFQS) seriously limits the high gradient performance of the buffered chemically polished (BCP) superconducting radio frequency (SRF) niobium cavities. The direct cause or mechanism is not yet fully understood. In our recent extensive data analysis, we concluded that the potential root cause could be nitrogen contamination on the ...
arxiv
A thermodynamic basis for prebiotic amino acid synthesis and the nature of the first genetic code [PDF]
, 2009 Of the twenty amino acids used in proteins, ten were formed in Miller's atmospheric discharge experiments. The two other major proposed sources of prebiotic amino acid synthesis include formation in hydrothermal vents and delivery to Earth via meteorites.
arxiv +1 more source
JIMD Reports, Volume 66, Issue 3, May 2025.ABSTRACT Systemic primary carnitine deficiency (SPCD) is a rare congenital fatty acid metabolism disorder causing impaired β‐oxidation and energy production, leading to hypoglycemia, metabolic encephalopathy, and sudden death. Early diagnosis and treatment, including L‐carnitine supplementation and fasting avoidance, can improve prognosis.
Tomoki Saito +13 more
wiley +1 more source
Molecular Genetics &Genomic Medicine, Volume 13, Issue 4, April 2025.Mitochondrial short‐chain enoyl‐CoA hydratase 1 deficiency (ECHS1D) is a rare genetic disorder caused by mutations in the ECHS1 gene. Two Chinese families with inborn errors of metabolism were diagnosed using whole‐exome sequencing, revealing one novel variant (c.759_762del, p.Gly255Valfs*21) in the ECHS1 gene.
Jihua Wu +4 more
wiley +1 more source
Systemic Messenger RNA Therapy as a Treatment for Methylmalonic Acidemia
Cell Reports, 2017 Summary: Isolated methylmalonic acidemia/aciduria (MMA) is a devastating metabolic disorder with poor outcomes despite current medical treatments. Like other mitochondrial enzymopathies, enzyme replacement therapy (ERT) is not available, and although ...
Ding An +23 more
doaj
Levodopa‐Carbidopa Intestinal Gel in an Outpatient Setting: A 10‐Year Experience
Movement Disorders Clinical Practice, EarlyView.
Alessandro Magliozzi +7 more
wiley +1 more source
Aging and Cancer—Inextricably Linked Across the Lifespan
Aging Cell, Volume 24, Issue 4, April 2025.Aging (as old man wind) alters the trajectory of cancer (dangerous seas) through changes in the immune system and metabolism (among many others), leading to altered cancer epidemiology, pathogenesis, and therapeutic responses, as represented by the research areas (boats)—artwork by Michael DeGregori.
James DeGregori +2 more
wiley +1 more source