Severe retinal degeneration in a patient with Canavan disease
| Document Type: | Article |
|---|---|
| Language: | English |
| Author: | Matthew D. Benson, David J. A. Plemel, Paul R. Freund, James R. Lewis, Jörn Oliver Sass, Luzy Bähr, Corinne Gemperle-Britschgi, Patrick Ferreira, Ian M. MacDonald |
| Parent Title (English): | Ophthalmic Genetics |
| Volume: | 42 |
| Issue: | 1 |
| Number of pages: | 4 |
| First Page: | 75 |
| Last Page: | 78 |
| ISSN: | 1381-6810 |
| DOI: | https://doi.org/10.1080/13816810.2020.1827441 |
| PMID: | https://pubmed.ncbi.nlm.nih.gov/32975148 |
| Publisher: | Informa Healthcare |
| Place of publication: | London |
| Date of first publication: | 2020/09/25 |
| Funding: | J.O. Sass gratefully acknowledges financial support by the program ‘FH Zeit für Forschung’ (project ‘KETOplus’, 005–1703-0016) of the Ministry of Culture and Science of the German State of North Rhine-Westphalia and by the Jürgen Manchot Stiftung (Düsseldorf, Germany). M.D. Benson is kindly supported by the Clinician-Scientist Emerging Leader Award from Fighting Blindness Canada (FBC). |
| Keyword: | ASPA; Canavan disease; N-acetylaspartic acid; electroretinography; retinal degeneration |
| Departments, institutes and facilities: | Fachbereich Angewandte Naturwissenschaften |
| Institut für funktionale Gen-Analytik (IFGA) | |
| Projects: | KETOplus - Ketonkörper: Mehr als nur Energieträger! (DE/MKW NRW/005-1703-0016) |
| Dewey Decimal Classification (DDC): | 5 Naturwissenschaften und Mathematik / 57 Biowissenschaften; Biologie / 576 Genetik und Evolution |
| Entry in this database: | 2020/10/06 |
