Results 21 to 30 of about 3,452,999 (260)

Carbonic anhydrase-VA deficiency: A close mimicker of urea cycle disorders [PDF]

Annals of Indian Academy of Neurology, 2021
Bhanudeep Singanamalla, Arushi Gahlot Saini, Savita Verma Attri, Renu Suthar, Kanya Mukhopadhyay   +4 more
doaj   +2 more sources

A deep intronic variant is a common cause of OTC deficiency in individuals with previously negative genetic testing

Molecular Genetics and Metabolism Reports, 2021
Pathogenic variants in non-coding regions of genes encoding enzymes or transporters of the urea cycle can lead to urea cycle disorders (UCDs). However, not all commercially available testing platforms interrogate these regions. Here, we used a gene panel
Runjun D. Kumar, Lindsay C. Burrage, Jan Bartos, Saima Ali, Eric Schmitt, Sandesh C.S. Nagamani, Cynthia LeMons   +6 more
doaj   +1 more source

Management of metabolic crisis in three-dayold newborn

Liječnički vjesnik, 2023
Urea cycle disorders are a group of metabolic disorders, caused by deficiency of one of the enzymes in the urea cycle, presenting with hyperammonemia triggered by catabolism or protein overload.
Tea Kržak, Lorena Loje Loje, Ivo Barić, Dorotea Ninković   +3 more
doaj   +1 more source

EVALUATION OF APPLIED DIETARY MANAGEMENT IN PATIENTS WITH UREA CYCLE DISORDERS [PDF]

Journal of Environmental Science, 2020
Urea cycle disorders (UCDs) represent a group of rare inherited metabolic disorders resulting from a partial or complete deficiency of one of the urea cycle components, thereby resulting in accumulation of ammonia, as well as other nitrogenous products ...
Neama NorEldin, Safwat Ali, Osama Zaki, Mohamed Omar   +3 more
doaj   +1 more source

Long-term effects of medical management on growth and weight in individuals with urea cycle disorders [PDF]

, 2020
Low protein diet and sodium or glycerol phenylbutyrate, two pillars of recommended long-term therapy of individuals with urea cycle disorders (UCDs), involve the risk of iatrogenic growth failure.
Garcia-Cazorla, Angeles, de Lonlay, Pascale, Yudkoff, Marc, Gropman, A. L., Nagamani, Sandesh CS, Garbade, S. F., Zielonka, M., Schulze, A., de Lonlay, P., Gleich, Florian, Baumgartner, Matthias R, Kölker, S., Dobbelaere, Dries, Hoffmann, Georg F, European registry and network for Intoxication type Metabolic Diseases (E-IMD), Gropman, Andrea L., Zielonka, Matthias, Garbade, Sven F, Baumgartner, Matthias R; https://orcid.org/, Baumgartner, Matthias R., Gleich, F., Hoffmann, Georg F., Garcia-Cazorla, A., Posset, Roland, Nagamani, S. C. S., Hoffmann, G. F., Kölker, Stefan, Urea Cycle Disorders Consortium (UCDC), Sokal, Etienne, Gropman, Andrea L, Nagamani, Sandesh C S, Schulze, Andreas, Posset, R., Baumgartner, M. R., Garbade, Sven F., Nagamani, Sandesh C. S., Yudkoff, M.   +36 more
core   +5 more sources

Relationship between longitudinal changes in neuropsychological outcome and disease biomarkers in urea cycle disorders

, 2023
BACKGROUND: Urea cycle disorders (UCDs) cause impaired conversion of waste nitrogen to urea leading to rise in glutamine and ammonia. Elevated ammonia and glutamine have been implicated in brain injury.
McCarter, Robert, Sanz, Jacqueline H, Baumgartner, Matthias R; https://orcid.org/, et al, Urea Cycle Disorders Consortium, Lichter-Konecki, Uta   +5 more
core   +2 more sources

Hepatic Manifestations of Urea Cycle Disorders. [PDF]

Clin Liver Dis (Hoboken), 2021
Content available: Author Interview and Audio Recording.
Strong A, Gold J, Gold NB, Yudkoff M.
europepmc   +4 more sources

Supporting your practice: Compounding sodium benzoate oral liquid for urea cycle disorders

, 2021
Urea cycle disorders (UCD) are rare inherited metabolic disorders with an incidence estimated to be 1: 35,000 births. UCDs are caused by the dysfunction of any of the six enzymes (namely, carbamoyl phosphate synthetase I, N-acetylglutamate synthetase ...
Haywood, Alison, Glass, Beverley
core   +1 more source

Hemodynamics of Prefrontal Cortex in Ornithine Transcarbamylase Deficiency: A Twin Case Study

Frontiers in Neurology, 2020
Ornithine transcarbamylase deficiency (OTCD) is the most common form of urea cycle disorder characterized by the presence of hyperammonemia (HA). In patients with OTCD, HA is known to cause impairments in domains of executive function and working memory.
Afrouz A. Anderson, Andrea Gropman, Cynthia Le Mons, Constantine A. Stratakis, Amir H. Gandjbakhche   +4 more
doaj   +1 more source

Exploring RNA therapeutics for urea cycle disorders. [PDF]

J Inherit Metab Dis
RNA has triggered a significant shift in modern medicine, providing a promis-ing way to revolutionize disease treatment methods. Different therapeutic RNA modalities have shown promise to replace, supplement, correct, suppress,or eliminate the expression
Richard E, Martínez-Pizarro A, Desviat LR.   +2 more
europepmc   +2 more sources