Deutsch
Login
Open Access
Home
Search
Browse
Publish
Help
Volltext-Downloads (blau) und Frontdoor-Views (grau)
Schließen
Author(s)
All words
At least one word
None of the words
Title
All words
At least one word
None of the words
Other Person(s)
All words
At least one word
None of the words
Referee(s)
All words
At least one word
None of the words
Abstract
All words
At least one word
None of the words
Fulltext
All words
None of the words
Refine
H-BRS Bibliography
no
(1)
yes
(1)
Departments, institutes and facilities
Institut für funktionale Gen-Analytik (IFGA)
(2)
Fachbereich Angewandte Naturwissenschaften
(1)
Document Type
Article
(2)
Year of publication
2016
(1)
2013
(1)
Language
English
(2)
Has Fulltext
no
(2)
Keywords
Aminoacylase 1
(1)
Aspartoacylase
(1)
Canavan disease
(1)
Dystonia
(1)
Movement disorder
(1)
N-acylated amino acids
(1)
2
search hits
1
to
2
25
10
20
50
100
Sort by
Year
Year
Title
Title
Author
Author
Expanding the phenotype in aminoacylase 1 (ACY1) deficiency: characterization of the molecular defect in a 63-year-old woman with generalized dystonia
(2016)
Sass, Jörn Oliver
;
Vaithilingam, Jathana
;
Gemperle-Britschgi, Corinne
;
Delnooz, Cathérine C. S.
;
Kluijtmans, Leo A. J.
;
van de Warrenburg, Bart P. C.
;
Wevers, Ron A.
3-Methylglutaconic aciduria--lessons from 50 genes and 977 patients
(2013)
Wortmann, Saskia B.
;
Kluijtmans, Leo A. J.
;
Rodenburg, Richard J.
;
Sass, Jörn Oliver
;
Nouws, Jessica
;
van Kaauwen, Edwin P.
;
Kleefstra, Tjitske
;
Tranebjaerg, Lisbeth
;
Vries, Maaike C. de
;
Isohanni, Pirjo
;
Walter, Katharina
;
Alkuraya, Fowzan S.
;
Smuts, Izelle
;
Reinecke, Carolus J.
;
van der Westhuizen, Francois H.
;
Thorburn, David
;
Smeitink, Jan A. M.
;
Morava, Eva
;
Wevers, Ron A.
1
to
2