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Aspartoacylase (1)
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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.
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