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HSD10 mitochondrial disease: p.Leu122Val variant, mild clinical phenotype, and founder effect in French‐Canadian patients from Quebec

BACKGROUND: HSD10 mitochondrial disease (HSD10MD), originally described as a deficiency of 2‐methyl‐3‐hydroxybutyryl‐CoA dehydrogenase (MHBD), is a rare X‐linked disorder of a moonlighting protein encoded by the HSD17B10. The diagnosis is usually first suspected on finding elevated isoleucine degrad...

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Detalles Bibliográficos
Autores principales:	Waters, Paula J., Lace, Baiba, Buhas, Daniela, Gravel, Serge, Cyr, Denis, Boucher, Renée‐Myriam, Bernard, Geneviève, Lévesque, Sébastien, Maranda, Bruno
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2019
Materias:	Original Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6900358/ https://www.ncbi.nlm.nih.gov/pubmed/31654490 http://dx.doi.org/10.1002/mgg3.1000

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