Clinical variability and outcome of succinyl‐CoA:3‐ketoacid CoA transferase deficiency caused by a s...
Clinical variability and outcome of succinyl‐CoA:3‐ketoacid CoA transferase deficiency caused by a single OXCT1 mutation: Report of 17 cases
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Hoboken, USA: John Wiley & Sons, Inc
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English
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Hoboken, USA: John Wiley & Sons, Inc
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Succinyl‐CoA:3‐ketoacid CoA transferase (SCOT) deficiency is an inherited metabolic disease caused by mutated OXCT1 gene resulting in recurrent ketoacidosis. Analysis of longitudinal data in such an ultra‐rare disease is warranted to delineate genotype–phenotype correlations and management outcome. A retrospective analysis of 17 patients, from nine...
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Clinical variability and outcome of succinyl‐CoA:3‐ketoacid CoA transferase deficiency caused by a single OXCT1 mutation: Report of 17 cases
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TN_cdi_doaj_primary_oai_doaj_org_article_b00db11c18a04167b07288a6d48d296d
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_b00db11c18a04167b07288a6d48d296d
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ISSN
2192-8312,2192-8304
E-ISSN
2192-8312
DOI
10.1002/jmd2.12248
