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Institut für funktionale Gen-Analytik (IFGA)
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Fachbereich Angewandte Naturwissenschaften
(2)
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Article
(5)
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2017
(1)
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2006
(1)
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English
(5)
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(5)
Keywords
Aminoacylase 1
(1)
Aspartoacylase
(1)
Canavan disease
(1)
Dystonia
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Movement disorder
(1)
N-acylated amino acids
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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.
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.
Mutations in ACY1, the gene encoding aminoacylase 1, cause a novel inborn error of metabolism
(2006)
Sass, Jörn Oliver
;
Mohr, Verena
;
Olbrich, Heike
;
Engelke, Udo
;
Horvath, Judit
;
Fliegauf, Manfred
;
Loges, Niki Tomas
;
Schweitzer-Krantz, Susanne
;
Moebus, Ralf
;
Weiler, Polly
;
Kispert, Andreas
;
Superti-Furga, Andrea
;
Wevers, Ron A.
;
Omran, Heymut
NMR spectroscopy of aminoacylase 1 deficiency, a novel inborn error of metabolism
(2008)
Engelke, Udo F. H.
;
Sass, Jörn Oliver
;
van Coster, Rudy N.
;
Gerlo, Erik
;
Olbrich, Heike
;
Krywawych, Stefan
;
Calvin, Jacqui
;
Hart, Claire
;
Omran, Heymut
;
Wevers, Ron A.
Mutations in SELENBP1, encoding a novel human methanethiol oxidase, cause extraoral halitosis
(2017)
Pol, Arjan
;
Renkema, G. Herma
;
Tangerman, Albert
;
Winkel, Edwin G.
;
Engelke, Udo F.
;
Brouwer, Arjan P. M. de
;
Lloyd, Kent C.
;
Araiza, Renee S.
;
van den Heuvel, Lambert
;
Omran, Heymut
;
Olbrich, Heike
;
Oude Elberink, Marijn
;
Gilissen, Christian
;
Rodenburg, Richard J.
;
Sass, Jörn Oliver
;
Schwab, K. Otfried
;
Schäfer, Hendrik
;
Venselaar, Hanka
;
Sequeira, J. Silvia
;
Op den Camp, Huub J. M.
;
Wevers, Ron A.
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