Results 71 to 80 of about 1,764 (178)
Comet assay to measure DNA repair: approach and applications [PDF]
, 2014 Cellular repair enzymes remove virtually all DNA damage before it is fixed; repair therefore plays a crucial role in preventing cancer. Repair studied at the level of transcription correlates poorly with enzyme activity, and so assays of phenotype are ...
Amaya Azqueta +4 more
core +2 more sources
Frontiers in Physiology, 2019 Liver cirrhosis (LC) is the final usual outcome of liver damage induced by various chronic liver diseases. Because of asymptomatic nature of LC, it is usually diagnosed at late and advanced stages, and patients are easy to miss the best timing for ...
Hye Jin Yoo +9 more
doaj +1 more source
Hereditary tyrosinemia type 1 in an infant with multiple congenital defects
Лечащий Врач, 2023 Hereditary tyrosinemia type 1 or hepatorenal tyrosinemia is a severe orphan autosomal-recessive disorder of tyrosine metabolism caused by a deficiency of the enzyme fumarylacetoacetate hydrolase (FAH).
H. A. Sarkisyan +10 more
doaj +1 more source
Liver transplantation for tyrosinemia. A review of 10 cases from the University of Pittsburgh. [PDF]
, 1990 Results of liver transplantation in 10 patients with tyrosinemia are reviewed. The indications for transplantation were: hepatoma in three, acute liver failure in two, and progressive chronic liver disease in five. One patient died during surgery. Of the
Esquivel, CO +8 more
core
Emergency Management of Intoxication‐Type Inherited Metabolic Disorders
Journal of Inherited Metabolic Disease, Volume 48, Issue 2, March 2025.ABSTRACT In many intoxication‐type inherited metabolic disorders, the accumulation of the toxic chemical can cause acute life‐threatening emergencies. Sometimes this is the inevitable consequence of a severe metabolic defect, but it is often triggered by catabolism.
J. Dexter Tarr, Andrew A. M. Morris
wiley +1 more source
International Journal of Neonatal Screening, 2016 Guanidinoacetate methyltransferase (GAMT) deficiency is an autosomal recessive genetic disorder which results in global developmental delay and intellectual disability. There is evidence that early treatment prevents intellectual disability and seizures.
Carter K. Asef +2 more
doaj +1 more source
Successive Drug Therapy for a Very Rare Autosomal Diseases [PDF]
, 2019 It is very rare to find reports concerning a drug therapy successively treating chromosomal abnormalities. In this paper, we are reporting a successive use of nitisinone in treating a fatal and very rare autosomal disease called hereditary tyrosinemia ...
Al-Noaemi, Mohammed Chyad +1 more
core +2 more sources
Deciphering the Molecular Pathways: How Polygonatum sibiricum Alleviates Myocardial Ischemia
Journal of Food Biochemistry, Volume 2025, Issue 1, 2025.Herbal medicine, like Polygonatum sibiricum, is gaining attention for its potential in treating myocardial ischemia. Comprehensive research on its molecular interplay is essential for its development as a therapeutic agent. The aim is to investigate the molecular mechanisms by which Polygonatum sibiricum ameliorates myocardial ischemia.
Zhenzhong Zhu +8 more
wiley +1 more source
eFood, Volume 5, Issue 6, December 2024.Glycerophospholipid metabolism, arginine‐proline metabolism, TCA cycle and alanine‐aspartate‐glutamate metabolism were significantly dysregulated after ATEC exposure. Downregulated l‐glutamate and l‐glutamine which participate in TCA cycle, resulting in the collapse of energy production and cytotoxicity.
Bing Jie Ma +8 more
wiley +1 more source
Scientific Reports, 2020 Fumarylacetoacetate hydrolase (FAH) catalyzes the final step in Tyr degradation pathway essential to animals but not well understood in plants. Previously, we found that mutation of SSCD1 encoding Arabidopsis FAH causes cell death under short day, which ...
Zhou Zhou +7 more
doaj +1 more source