Results 21 to 30 of about 475,319 (124)
Urea cycle disorders and indications for liver transplantation
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 +1 more source
Unmet Needs of Parents of Children with Urea Cycle Disorders
Children, 2022 (1) Background: Phenotypic diversity and long-term health outcomes of individuals with urea cycle disorders (UCDs) have been described in detail. However, there is limited information on the burden on affected families.
Mara Scharping +8 more
doaj +1 more source
Earwax: A potentially useful medium to identify inborn errors of metabolism?
JIMD Reports, 2020 Earwax was investigated as a source to identify patients' different inborn errors of metabolism (IEMs). Acylcarnitines, amino acids, and guanidino metabolites were measured from 28 treated patients with 11 different metabolic disorders including 3 ...
Stefan Krywawych +3 more
doaj +1 more source
Reversed argininosuccinate lyase activity in fumarate hydratase-deficient cancer cells [PDF]
, 2013 Loss of function of fumarate hydratase (FH), the mitochondrial tumor suppressor and tricarboxylic acid (TCA) cycle enzyme, is associated with a highly malignant form of papillary and collecting duct renal cell cancer.
Frezza, Christian +9 more
core +8 more sources
Evaluation of the Neurodevelopmental Status for Urea Cycle Disorders: Based on Clinical Experience
Journal of Pediatric Research, 2023 Aim:Urea cycle disorders (UCD) still have poor neurological outcomes despite early diagnosis and treatment. We aimed to present the neurological outcomes of UCD patients and to determine the main simple and accessible factors affecting these outcomes ...
Ayşe Ergül Bozacı +7 more
doaj +1 more source
Biomedicines, 2023 Argininosuccinic aciduria (ASA) is a metabolic disorder caused by a deficiency in argininosuccinate lyase (ASL), which cleaves argininosuccinic acid to arginine and fumarate in the urea cycle.
Owen Daly +17 more
doaj +1 more source
Nitric oxide is required for lung alveolarization revealed by deficiency of argininosuccinate lyase [PDF]
, 2023 Inhaled nitric oxide (NO) therapy has been reported to improve lung growth in premature newborns. However, the underlying mechanisms by which NO regulates lung development remain largely unclear.
Ming-Ming Jiang +5 more
core +1 more source
Urea cycle disorders in Argentine patients: clinical presentation, biochemical and genetic findings
Orphanet Journal of Rare Diseases, 2019 Background The incidence, prevalence, and molecular epidemiology of urea cycle disorders (UCDs) in Argentina remain underexplored. The present study is the first to thoroughly assess the clinical and molecular profiles of UCD patients examined at a ...
Silene M. Silvera-Ruiz +9 more
doaj +1 more source
Clinical and genetic analysis of five Chinese patients with urea cycle disorders
Molecular Genetics & Genomic Medicine, 2020 Background The urea cycle plays a key role in preventing the accumulation of toxic nitrogenous waste products, including two essential enzymes: ornithine transcarbamylase (OTC) and argininosuccinate lyase (ASL).
Zhenzhu Zheng +6 more
doaj +1 more source
Revista de Enfermagem da UFJF, 2023 Objetivo: Evidenciar os principais cuidados relacionados à assistência de enfermagem ao recém-nascido com acidúria argininosuccínica em unidade de terapia intensiva neonatal. Metodologia: Estudo observacional do tipo relato de caso.
Carolaine das Graças Marcon Gumildes +3 more
doaj +1 more source