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

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)

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 and Nuoffer, Jean-Marc

ISSN:

0141-8955

Publisher:

Springer Netherlands

Language:

English

Submitter:

Factscience Import

Date Deposited:

04 Oct 2013 14:22

Last Modified:

22 Oct 2019 17:00

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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