Concepedia

The Clinical Phenotype and Outcome of Mitochondrial Acetoacetyl-CoA Thiolase Deficiency (β-Ketothiolase or T2 Deficiency) in 26 Enzymatically Proved and Mutation-Defined Patients

Toshiyuki Fukao, C R Scriver, Naomi Kondo

Molecular Genetics and Metabolism · 2001 · 104 citations · 27 references

DOI

Concepts

References

27

A " NEW " DISORDER OF ISOLEUCINE CATABOLISM

Robert S. Daum, Orval Mamer, Peter Lamm et al. · The Lancet · 1971 · 134 citations · Full text

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An Inherited Disorder of Isoleucine Catabolism Causing Accumulation of α-Methylacetoacetate and α-Methyl-β-hydroxybutyrate, and Intermittent Metabolic Acidosis

Robert S. Daum, Charles R. Scriver, Orval Mamer et al. · Pediatric Research · 1973 · 108 citations

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Acetoacetyl CoA thiolase deficiency: A cause of severe ketoacidosis in infancy simulating salicylism

Brian H. Robinson, W. G. Sherwood, Jennifer Taylor et al. · The Journal of Pediatrics · 1979 · 78 citations

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A defect in l-isoleucine metabolism associated with α-methyl-β-hydroxybutyric and α-methylacetoacetic aciduria: Quantitative in vivo and in vitro studies

D. Gompertz, Jean‐Marie Saudubray, C. Charpentier et al. · Clinica Chimica Acta · 1974 · 53 citations

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Beta-ketothiolase deficiency in a family confirmed by in vitro enzymatic assays in fibroblasts

R. B. H. Schutgens, B. Middleton, J. F. van den Blij et al. · European Journal of Pediatrics · 1982 · 47 citations

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