Clinical variability and outcome of succinyl‐CoA:3‐ketoacid CoA transferase deficiency caused by a single OXCT1 mutation: Report of 17 cases

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....

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Detalles Bibliográficos
Autores principales: Alghamdi, Malak A., Tohary, Mohammed, Alzaidan, Hamad, Imtiaz, Faiqa, Al‐Hassnan, Zuhair N.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2021
Materias:
Research Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8574173/
https://www.ncbi.nlm.nih.gov/pubmed/34765403
http://dx.doi.org/10.1002/jmd2.12248

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8574173/
https://www.ncbi.nlm.nih.gov/pubmed/34765403
http://dx.doi.org/10.1002/jmd2.12248

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