Expanding the phenotype in aminoacylase 1 (ACY1) deficiency: characterization of the molecular defect in a 63-year-old woman with generalized dystonia
Document Type: | Article |
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Language: | English |
Author: | Jörn Oliver Sass, Jathana Vaithilingam, Corinne Gemperle-Britschgi, Cathérine C. S. Delnooz, Leo A. J. Kluijtmans, Bart P. C. van de Warrenburg, Ron A. Wevers |
Parent Title (English): | Metabolic Brain Disease |
Volume: | 31 |
Issue: | 3 |
First Page: | 587 |
Last Page: | 592 |
ISSN: | 0885-7490 |
DOI: | https://doi.org/10.1007/s11011-015-9778-6 |
PMID: | https://pubmed.ncbi.nlm.nih.gov/26686503 |
Publisher: | Springer US |
Date of first publication: | 2015/12/19 |
Keyword: | Aminoacylase 1; Aspartoacylase; Canavan disease; Dystonia; Movement disorder; N-acylated amino acids |
Departments, institutes and facilities: | Fachbereich Angewandte Naturwissenschaften |
Institut für funktionale Gen-Analytik (IFGA) | |
Dewey Decimal Classification (DDC): | 6 Technik, Medizin, angewandte Wissenschaften / 61 Medizin und Gesundheit / 610 Medizin und Gesundheit |
Entry in this database: | 2016/01/21 |