Mitochondrial acetoacetyl-CoA thiolase deficiency: basal ganglia impairment may occur independently of ketoacidosis-Reference-Cited by-同舟云学术

Mitochondrial acetoacetyl-CoA thiolase deficiency: basal ganglia impairment may occur independently of ketoacidosis

Published:2017-03-02 Issue:3 Volume:40 Page:415-422
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

Paquay Stéphanie,Bourillon Agnès,Pichard Samia,Benoist Jean-François,de Lonlay Pascale,Dobbelaere Dries,Fouilhoux Alain,Guffon Nathalie,Rouvet Isabelle,Labarthe François,Mention Karine,Touati Guy,Valayannopoulos Vassili,Ogier de Baulny Hélène,Elmaleh-Bergès Monique,Acquaviva-Bourdain Cécile,Vianey-Saban Christine,Schiff Manuel

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/s10545-017-0021-y.pdf

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4. Buhas D, Bernard G, Fukao T, Décarie JC, Chouinard S, Mitchell GA (2013) A treatable new cause of chorea: beta-ketothiolase deficiency. Mov Disord 28:1054–1056

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