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HSD10 disease in a female: A case report and review of literature

HSD10 disease is a rare X‐linked mitochondrial disorder caused by pathogenic variants in the HSD17B10 gene. The phenotype results from impaired 17β‐hydroxysteroid dehydrogenase 10 (17β‐HSD10) protein structure and function. HSD10 is a multifunctional protein involved in enzymatic degradation of isol...

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Detalles Bibliográficos
Autores principales:	Upadia, Jariya, Walano, Nicolette, Noh, Grace S., Liu, Jiao, Li, Yuwen, Deputy, Stephen, Elliott, Lindsay T., Wong, Joaquin, Lee, Jennifer A., Caylor, Raymond C., Andersson, Hans C.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley & Sons, Inc. 2021
Materias:	Case Reports
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8574182/ https://www.ncbi.nlm.nih.gov/pubmed/34765396 http://dx.doi.org/10.1002/jmd2.12250

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