Deficient beta-ketothiolase activity in leukocytes from a patient with 2-methylacetoacetic aciduria
Author:
Publisher
Elsevier BV
Subject
Biochemistry (medical),Clinical Biochemistry,Biochemistry,General Medicine
Reference14 articles.
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3. Hyperglycinemia with ketosis due to a defect in isoleucine metabolism: a preliminary report;Keating;Pediatrics,1972
4. A defect in l-isoleucine metabolism associated with α-methyl-β-hydroxybutyric and α-methylacetoacetic aciduria: quantitative in vivo and in vitro studies;Gompertz;Clin Chim Acta,1974
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1. Beta-Ketothiolase Deficiency;Journal of Inborn Errors of Metabolism and Screening;2016-03-30
2. Mitochondrial acetoacetyl-CoA thiolase (3-oxothiolase) deficiency;Atlas of Inherited Metabolic Diseases 3E;2011-12-30
3. The mitochondrial acetoacetyl-CoA thiolase (T2) deficiency in Japanese patients: urinary organic acid and blood acylcarnitine profiles under stable conditions have subtle abnormalities in T2-deficient patients with some residual T2 activity;Journal of Inherited Metabolic Disease;2003-07
4. The Clinical Phenotype and Outcome of Mitochondrial Acetoacetyl-CoA Thiolase Deficiency (β-Ketothiolase or T2 Deficiency) in 26 Enzymatically Proved and Mutation-Defined Patients;Molecular Genetics and Metabolism;2001-02
5. Characterization of N93S, I312T, and A333P missense mutations in two Japanese families with mitochondrial acetoacetyl-CoA thiolase deficiency;Human Mutation;1998
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