Results 1 to 10 of about 3,452,999 (260)
Modelling urea cycle disorders using iPSCs [PDF]
npj Regenerative Medicine, 2022 The urea cycle is a liver-based pathway enabling disposal of nitrogen waste. Urea cycle disorders (UCDs) are inherited metabolic diseases caused by deficiency of enzymes or transporters involved in the urea cycle and have a prevalence of 1:35,000 live ...
Claire Duff, Julien Baruteau
doaj +4 more sources
Beclin‐1‐mediated activation of autophagy improves proximal and distal urea cycle disorders [PDF]
EMBO Molecular Medicine, 2020 Urea cycle disorders (UCD) are inherited defects in clearance of waste nitrogen with high morbidity and mortality. Novel and more effective therapies for UCD are needed.
Leandro R Soria +18 more
doaj +4 more sources
Severity-adjusted evaluation of liver transplantation on health outcomes in urea cycle disorders. [PDF]
Genet Med, 2023 Purpose: Liver transplantation (LTx) is performed in individuals with urea cycle disorders when medical management (MM) insufficiently prevents the occurrence of hyperammonemic events.
Posset R +13 more
europepmc +8 more sources
Urea cycle disorders and indications for liver transplantation [PDF]
Frontiers in Pediatrics, 2023 Urea cycle disorders (UCD) are inborn errors of metabolism caused by deficiency of enzymes required to convert nitrogen from ammonia into urea.
Marta García Vega +7 more
doaj +2 more sources
Urea Cycle Disorders in Neonates: Six Case Reports
Journal of Pediatric Research, 2017 Urea cycle disorders are a group of diseases associated with hyperammonemia, which causes severe neurological sequelae, seizures and psychomotor retardation. In this study, six newborn cases diagnosed between 2010-2014 as citrullinemia Type I (four cases)
Kıymet Çelik +7 more
doaj +3 more sources
Pre-emptive treatment in later-onset urea cycle disorders: a clinical perspective on glycerol phenylbutyrate [PDF]
Orphanet Journal of Rare DiseasesBackground Later-onset urea cycle disorders (UCD) are characterized by variable clinical presentation and unpredictable metabolic decompensation.
Marco Spada, Francesco Porta
doaj +2 more sources
Creatine metabolism in patients with urea cycle disorders [PDF]
Molecular Genetics and Metabolism Reports, 2021 The urea cycle generates arginine that is one of the major precursors for creatine biosynthesis. Here we evaluate levels of creatine and guanidinoacetate (the precursor in the synthesis of creatine) in plasma samples (ns = 207) of patients (np = 73) with
Filippo Ingoglia +3 more
doaj +2 more sources
Citrulline in the management of patients with urea cycle disorders [PDF]
Orphanet Journal of Rare Diseases, 2023 Background Treatment recommendations for urea cycle disorders (UCDs) include supplementation with amino acids involved in the urea cycle (arginine and/or citrulline, depending on the enzyme deficiency), to maximize ammonia excretion through the urea ...
Apolline Imbard +10 more
doaj +2 more sources
JAAPABakalářská práce se zabývá močovinovým cyklem, enzymy v něm vystupujícími, deficity těchto enzymů a léčení těchto poruch. Současně se také pojednává o hyperamonemii jako o hlavním symptomu poruch močovinového cyklu.
Bisht S, Corado A, Jaishankar GB.
europepmc +7 more sources
Current Treatment Options in Neurology, 2003 Urea cycle disorders comprise a group of inborn errors of metabolism that represent unique gene-nutrient interactions whose significant morbidity arises from acute and chronic neurotoxicity associated with often massive hyperammonemia.
Lee, Brendan +2 more
core +3 more sources