Results 91 to 100 of about 6,761,337 (191)
Primary hyperoxaluria Type 1: organic aciduria diagnosed in plasma [PDF]
, 2013 Background: Primary hyperoxaluria Type 1 (PH1) is a rare autosomal recessive inborn error of glyoxylate metabolism, caused by a deficiency of the liver-specific peroxisomal enzyme alanine:glyoxylate aminotransferase.
Dias, Aureliano +3 more
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Glutaric aciduria type 1 – the mask cerebral palsy (case report)
Нервно-мышечные болезниWe report an 8-year-old patient with glutaric aciduria type 1 associated with compound heterozygous mutations c.1204C>T (p.Arg402Trp) and c.547C>T (p.Ser216Leu) in GCDH. Clinical case illustrates the difficulty in diagnosing this hereditary disease,
D. V. I +4 more
doaj +1 more source
Quantitative proteomics of rat livers shows that unrestricted feeding is stressful for proteostasis with implications on life span. [PDF]
, 2016 Studies in young mammals on the molecular effects of food restriction leading to prolong adult life are scares. Here, we used high-throughput quantitative proteomic analysis of whole rat livers to address the molecular basis for growth arrest and the ...
Finka, A. +5 more
core +1 more source
European Journal of Neurology, Volume 32, Issue 10, October 2025.This review provides an updated clinical and genetic framework for the differential diagnosis of hereditary chorea. It guides neurologists through the interpretation of phenomenology, ancillary tests, and appropriate genetic techniques to achieve an accurate and timely diagnosis.
Jesús Pérez‐Pérez +5 more
wiley +1 more source
Increased susceptibility to quinolinic acid-induced seizures and long-term changes in brain oscillations in an animal model of glutaric acidemia type I [PDF]
, 2022 Glutaric acidemia type I (GA-I) is an inborn error of metabolism of lysine, hydroxylysine, and tryptophan, caused by glutaryl-CoA-dehydrogenase (GCDH) deficiency, characterized by the buildup of toxic organic acids predominantly in the brain. After acute
Calcagnotto, Maria Elisa +5 more
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Ecology and Evolution, Volume 15, Issue 9, September 2025.The microbial pathways of tryptophan metabolism predominate in active snakes, while the 5‐hydroxytryptamine pathway and kynurenine pathway govern tryptophan catabolism in hibernating snakes. ABSTRACT Hibernation is a common behavioral strategy for snakes to cope with extreme environments.
Yuting Wei +10 more
wiley +1 more source
Evidence that links loss of cyclooxygenase-2 with increased asymmetric dimethylarginine : novel explanation of cardiovascular side effects associated with anti-inflammatory drugs [PDF]
, 2014 © 2014 The Authors. This is an open access article under the terms of the Creative Commons Attribution License, which permits use, distribution, and reproduction in any medium, provided that the original work is properly cited.BACKGROUND: Cardiovascular ...
Ahmetaj-Shala, Blerina +13 more
core +4 more sources
Multi‐Omics Reveal the Metabolic Changes in Cumulus Cells During Aging
Cell Proliferation, Volume 58, Issue 8, August 2025.Fatty acid β‐oxidation was elevated in cumulus cells from older mice. Tryptophan metabolism in aged cumulus cells was active. Supplementing with 5‐HT could mitigate aging damage in oocytes. ABSTRACT Maternal age has been reported to impair oocyte quality.
Liangyue Shi +6 more
wiley +1 more source
Journal of Pediatric Research, 2018 Glutaric aciduria Type I (GA-I) is a rare inherited metabolic disease, deficiency of glutaryl-CoA dehydrogenase results in accumulation of the putatively neurotoxic metabolites glutaric and 3-hydroxyglutaric acid (GA, 3-OH-GA) in body tissues ...
Ebru Canda +11 more
doaj +1 more source
The outcome of 41 Late-Diagnosed Turkish GA-1 Patients: A Candidate for the Turkish NBS [PDF]
, 2021 Background: Glutaric aciduria type 1(GA-1) is an inherited cerebral organic aciduria. Untreated patients with GA-1 have a risk of acute encephalopathic crises during the first 6 years of life.
Bulut, D +8 more
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