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  2. Details for: Mitochondrial acetoacetyl-CoA thiolase deficiency: basal ganglia impairment may occur independently of ketoacidosis.
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Mitochondrial acetoacetyl-CoA thiolase deficiency: basal ganglia impairment may occur independently of ketoacidosis. [electronic resource]

By:
  • Paquay, Stéphanie
Contributor(s):
  • 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
Producer: 20170824Description: 415-422 p. digitalISSN:
  • 1573-2665
Subject(s):
  • Acetyl-CoA C-Acetyltransferase -- deficiency
  • Acetyl-CoA C-Acyltransferase -- deficiency
  • Adolescent
  • Adult
  • Amino Acid Metabolism, Inborn Errors -- metabolism
  • Basal Ganglia -- metabolism
  • Child
  • Child, Preschool
  • Female
  • Humans
  • Infant
  • Infant, Newborn
  • Isoleucine -- metabolism
  • Ketone Bodies -- metabolism
  • Ketosis -- metabolism
  • Male
  • Mitochondria -- metabolism
  • Neonatal Screening -- methods
  • Retrospective Studies
  • Young Adult
Online resources:
  • Available from publisher's website
In: Journal of inherited metabolic disease vol. 40
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Publication Type: Journal Article

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

APA

Paquay S., Bourillon A., Pichard S., Benoist J., de Lonlay P., Dobbelaere D., Fouilhoux A., Guffon N., Rouvet I., Labarthe F., Mention K., Touati G., Valayannopoulos V., Ogier de Baulny H., Elmaleh-Bergès M., Acquaviva-Bourdain C., Vianey-Saban C. & Schiff M. (20170824). Mitochondrial acetoacetyl-CoA thiolase deficiency: basal ganglia impairment may occur independently of ketoacidosis. : Journal of inherited metabolic disease.

Chicago

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 and Schiff Manuel. 20170824. Mitochondrial acetoacetyl-CoA thiolase deficiency: basal ganglia impairment may occur independently of ketoacidosis. : Journal of inherited metabolic disease.

Harvard

Paquay S., Bourillon A., Pichard S., Benoist J., de Lonlay P., Dobbelaere D., Fouilhoux A., Guffon N., Rouvet I., Labarthe F., Mention K., Touati G., Valayannopoulos V., Ogier de Baulny H., Elmaleh-Bergès M., Acquaviva-Bourdain C., Vianey-Saban C. and Schiff M. (20170824). Mitochondrial acetoacetyl-CoA thiolase deficiency: basal ganglia impairment may occur independently of ketoacidosis. : Journal of inherited metabolic disease.

MLA

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 and Schiff Manuel. Mitochondrial acetoacetyl-CoA thiolase deficiency: basal ganglia impairment may occur independently of ketoacidosis. : Journal of inherited metabolic disease. 20170824.

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