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
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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 discriminate between severe, mild or asymptomatic cases. Mutation/phenotype correlation studies are needed to characterize the effects of individual mutations on the activity of the enzyme.
Item Type: |
Journal Article (Original Article) |
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Division/Institute: |
04 Faculty of Medicine > Department of Haematology, Oncology, Infectious Diseases, Laboratory Medicine and Hospital Pharmacy (DOLS) > Institute of Clinical Chemistry 04 Faculty of Medicine > Department of Gynaecology, Paediatrics and Endocrinology (DFKE) > Clinic of Paediatric Medicine |
UniBE Contributor: |
Groux, Murielle, Nuoffer, Jean-Marc |
ISSN: |
0141-8955 |
Publisher: |
Springer Netherlands |
Language: |
English |
Submitter: |
Anette van Dorland |
Date Deposited: |
04 Oct 2013 14:22 |
Last Modified: |
05 Dec 2022 14:06 |
Publisher DOI: |
10.1007/s10545-011-9357-x |
PubMed ID: |
21667091 |
Web of Science ID: |
000298652700016 |
Additional Information: |
Engel, Katharina;Vuissoz, Jean-Marc;Eggimann, Sandra;Groux, Murielle;Berning, Christoph;Hu, Liyan;Klaus, Vera;Moeslinger, Dorothea;Mercimek-Mahmutoglu, Saadet;Stockler, Sylvia;Wermuth, Bendicht;Haberle, Johannes;Nuoffer, Jean-Marc;Netherlands;J Inherit Metab Dis. 2012 Jan;35(1):133-40. doi: 10.1007/s10545-011-9357-x. Epub 2011 Jun 11. |
BORIS DOI: |
10.7892/boris.7629 |
URI: |
https://boris.unibe.ch/id/eprint/7629 (FactScience: 212928) |
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