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Journal of Inherited Metabolic Disease
Published in: Journal of Inherited Metabolic Disease 3/2012

01-05-2012 | Letter to the Editors

Yeast complementation is sufficiently sensitive to detect the residual activity of ASL alleles associated with mild forms of argininosuccinic aciduria

Authors: Mara Doimo, Eva Trevisson, Geppo Sartori, Alberto Burlina, Leonardo Salviati

Published in: Journal of Inherited Metabolic Disease | Issue 3/2012

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Excerpt

Dear Editors, …
Appendix
Available only for authorised users
Literature
Engel K, Vuissoz JM, Eggimann S, Groux M, Berning C, Hu L, Klaus V, Moeslinger D, Mercimek-Mahmutoglu S, Stöckler S, Wermuth B, Häberle J, Nuoffer JM (2012) Bacterial expression of mutant argininosuccinate lyase reveals imperfect correlation of in-vitro enzyme activity with clinical phenotype in argininosuccinic aciduria. J Inherit Metab Dis doi:10.​1007/​s10545-011-9357-x
Trevisson E, Burlina A, Doimo M, Pertegato V, Casarin A, Cesaro L, Navas P, Basso G, Sartori G, Salviati L (2009) Functional complementation in yeast allows molecular characterization of missense argininosuccinate lyase mutations. J Biol Chem 284:28926–28934PubMedCrossRef
Metadata
Title
Yeast complementation is sufficiently sensitive to detect the residual activity of ASL alleles associated with mild forms of argininosuccinic aciduria
Authors
Mara Doimo
Eva Trevisson
Geppo Sartori
Alberto Burlina
Leonardo Salviati
Publication date
01-05-2012
Publisher
Springer Netherlands
Published in
Journal of Inherited Metabolic Disease / Issue 3/2012
Print ISSN: 0141-8955
Electronic ISSN: 1573-2665
DOI
https://doi.org/10.1007/s10545-011-9402-9

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Live Webinar | 27-06-2024 | 18:00 (CEST)

Keynote webinar | Spotlight on medication adherence

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Live: Thursday 27th June 2024, 18:00-19:30 (CEST)

WHO estimates that half of all patients worldwide are non-adherent to their prescribed medication. The consequences of poor adherence can be catastrophic, on both the individual and population level.

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Prof. Anoop Chauhan
Developed by: Springer Medicine
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