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Severe retinal degeneration in a patient with Canavan disease

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Metadaten
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