Delayed-onset dystonia associated with 3-oxothiolase deficiency
Author:
Publisher
Wiley
Subject
Neurology (clinical),Neurology
Reference16 articles.
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2. Molecular basis of β- ketothiolase deficiency: mutation and polymorphisms in the human mitochondrial acetoacetyl-coenzyme A thiolase gene;Fukao;Human Mutat,1995
3. The synthesis and characterisation of 2-methylacetoacetyl coenzyme A and its use in the identification of the site of the defect in 2-methylacetoacetic and 2-methyl-3-hydroxybutyric aciduria;Middleton;Clin Chim Acta,1983
4. Congestive cardiomyopathy associated with β-ketothiolase deficiency;Henry;J Pediatrics,981
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4. Mitochondrial acetoacetyl-CoA thiolase deficiency: basal ganglia impairment may occur independently of ketoacidosis;Journal of Inherited Metabolic Disease;2017-03-02
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