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2-Methylacetoacetyl CoA Thiolase Deficiency

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Review Articles from PubMed

Review articles summarize what is currently known about a disease. They discuss research previously published by others. The terms "2-Methylacetoacetyl CoA Thiolase Deficiency" returned 0 free, full-text review articles. First 0 results:
Mitochondrial 2-methylacetoacetyl-CoA thiolase deficiency: an inborn error of isoleucine and ketone body metabolism.
Last Updated: Mar 04, 2020

A review is presented of 22 published cases of verified or probable mitochondrial 2-methylacetoacetyl-CoA thiolase deficiency, a disorder of isoleucine and ketone body metabolism. The clinical expression, characterized by ketoacidosis, vomiting and lethargy, is highly variable. Typical ...

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Editorials from PubMed

Editorial articles describe the outcome of a single study. They are the published results of original research. The terms "2-Methylacetoacetyl CoA Thiolase Deficiency" returned 0 free, full-text editorial articles. First 0 results:
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Research Articles from PubMed

Research articles describe the outcome of a single study. They are the published results of original research. The terms "2-Methylacetoacetyl CoA Thiolase Deficiency" returned 2 free, full-text research articles. First 2 results:
Biochemical profiling in two siblings with mitochondrial 2-methylacetoacetyl-CoA thiolase deficiency.
Last Updated: Mar 18, 2009

We report the biochemical profiling in two siblings with mitochondrial 2-methylacetoacetyl-CoA thiolase deficiency. Organic aciduria typical of this rare inborn error metabolism was found when the elder sibling presented with an episode of severe ketoacidosis at 20 months of age, ...

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