Bacterial expression of mutant argininosuccinate lyase reveals imperfect correlation of in-vitro enzyme activity with clinical phenotype in argininosuccinic aciduria

Autor: Dorothea Moeslinger, Sandra Eggimann, Katharina Engel, Johannes Häberle, Liyan Hu, Saadet Mercimek-Mahmutoglu, Bendicht Wermuth, Christoph Berning, Sylvia Stockler, Jean-Marc Vuissoz, Vera Klaus, Jean-Marc Nuoffer, Murielle Groux

Publikováno v: Engel, Katharina; Vuissoz, Jean-Marc; Eggimann, Sandra; Groux, Murielle; Berning, Christoph; Hu, Liyan; Klaus, Vera; Moeslinger, Dorothea; Mercimek-Mahmutoglu, Saadet; Stöckler, Sylvia; Wermuth, Bendicht; Häberle, Johannes; Nuoffer, Jean-Marc (2012). Bacterial expression of mutant argininosuccinate lyase reveals imperfect correlation of in-vitro enzyme activity with clinical phenotype in argininosuccinic aciduria. Journal of inherited metabolic disease, 35(1), pp. 133-40. Lancaster, UK: Springer Netherlands 10.1007/s10545-011-9357-x
Journal of inherited metabolic disease

BACKGROUND The urea cycle defect argininosuccinate lyase (ASL) deficiency has a large spectrum of presentations from highly severe to asymptomatic. Enzyme activity assays in red blood cells or fibroblasts although diagnostic of the deficiency fail to

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::56243901ce356db24dc95957ec7bc171
https://boris.unibe.ch/7629/1/10545_2011_Article_9357.pdf