Zobrazeno 1 - 10
of 74
pro vyhledávání: '"argininosuccinate lyase deficiency"'
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 39, Iss , Pp 101108- (2024)
Argininosuccinic aciduria (ASA) is a disorder that results from a deficiency in the urea cycle enzyme argininosuccinate lyase. Variable manifestations of this hereditary disorder are associated with hyperammonemia and can include lethargy, somnolence
Externí odkaz:
https://doaj.org/article/d3482793b3744e70944fa9a79e82e6ec
Autor:
Laurent Leuger, Xavier Dieu, Juan Manuel Chao de la Barca, Mikael Moriconi, Guillaume Halley, Xavier Donin de Rosière, Pascal Reynier, Delphine Mirebeau‐Prunier, Chadi Homedan
Publikováno v:
JIMD Reports, Vol 62, Iss 1, Pp 44-48 (2021)
Abstract Argininosuccinate lyase deficiency (ASLD, MIM #207900) is an inherited urea cycle disorder. There are mainly two clinical forms, an acute neonatal form which manifests as life‐threatening hyperammonemia, and a late‐onset form characteris
Externí odkaz:
https://doaj.org/article/752650dca1c245a684f60b906448d54f
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Autor:
Owen Daly, Azita Josefine Mahiny, Sara Majeski, Kevin McClintock, Julia Reichert, Gábor Boros, Gábor Tamás Szabó, Jonas Reinholz, Petra Schreiner, Steve Reid, Kieu Lam, Marlen Lepper, Melanie Adler, Tracy Meffen, James Heyes, Katalin Karikó, Pete Lutwyche, Irena Vlatkovic
Publikováno v:
Biomedicines, Vol 11, Iss 6, p 1735 (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. ASL deficiency (ASLD) leads to hepatocyte dysfunction, hy
Externí odkaz:
https://doaj.org/article/25fe821524ea47a48910c484bef99572
Autor:
Silene M. Silvera-Ruiz, José A. Arranz, Johannes Häberle, Celia J. Angaroni, Miriam Bezard, Norberto Guelbert, Adriana Becerra, Fernanda Peralta, Raquel Dodelson de Kremer, Laura E. Laróvere
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-8 (2019)
Abstract 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 examin
Externí odkaz:
https://doaj.org/article/17dc06246177496fb683b009d2c14c63
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 7, Pp n/a-n/a (2020)
Abstract 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). Ornithine transcarbamylase de
Externí odkaz:
https://doaj.org/article/801726d4b7b6401096c5770d7486939f
Autor:
Vlatkovic, Owen Daly, Azita Josefine Mahiny, Sara Majeski, Kevin McClintock, Julia Reichert, Gábor Boros, Gábor Tamás Szabó, Jonas Reinholz, Petra Schreiner, Steve Reid, Kieu Lam, Marlen Lepper, Melanie Adler, Tracy Meffen, James Heyes, Katalin Karikó, Pete Lutwyche, Irena
Publikováno v:
Biomedicines; Volume 11; Issue 6; Pages: 1735
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. ASL deficiency (ASLD) leads to hepatocyte dysfunction, hy
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=multidiscipl::70340db4d8907d564b2348d655c7f221
Autor:
Laurent Leuger, Guillaume Halley, Juan Manuel Chao de la Barca, Chadi Homedan, Delphine Mirebeau-Prunier, Mikael Moriconi, Xavier Donin de Rosière, Pascal Reynier, Xavier Dieu
Publikováno v:
JIMD Reports, Vol 62, Iss 1, Pp 44-48 (2021)
JIMD Reports
JIMD Reports
Argininosuccinate lyase deficiency (ASLD, MIM #207900) is an inherited urea cycle disorder. There are mainly two clinical forms, an acute neonatal form which manifests as life‐threatening hyperammonemia, and a late‐onset form characterised by pol
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::512cbcfd65bea0be4c0834e955beec76
https://doi.org/10.1002/jmd2.12251
https://doi.org/10.1002/jmd2.12251
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 4, Iss C, Pp 6-8 (2015)
A severely chronically protein and calorie restricted young woman with argininosuccinate lyase deficiency developed transient refeeding syndrome (RFS) and hyperammonemia after modest diet liberalization following initiation of glycerol phenylbutyrate
Externí odkaz:
https://doaj.org/article/c053b205b9cf4bcdaff813496ec08764