Volltext-Downloads (blau) und Frontdoor-Views (grau)
  • search hit 1 of 1
Back to Result List

Expanding the phenotype in aminoacylase 1 (ACY1) deficiency: characterization of the molecular defect in a 63-year-old woman with generalized dystonia

Export metadata

Additional Services

Share in Twitter Search Google Scholar Availability

Statistics

frontdoor_oas
Metadaten
Document Type:Article
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
Pubmed Id:http://www.ncbi.nlm.nih.gov/pubmed?term=26686503
Publisher:Springer US
Date of first publication:2015/12/19
Tag: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