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Hyporeninemic hypoaldosteronism in RMND1-related mitochondrial disease

BACKGROUND: RMND1 is a nuclear gene needed for proper function of mitochondria. A pathogenic gene will cause multiple oxidative phosphorylation defects. A renal phenotype consisting of hyponatremia, hyperkalemia, and acidosis is frequently reported, previously considered to be due to aldosterone ins...

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Detalles Bibliográficos
Autores principales:	Kömhoff, Martin, Gracchi, Valentina, Dijkman, Henry, Beck, Bodo B., Monnens, Leo
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Springer Berlin Heidelberg 2023
Materias:	Original Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10673983/ https://www.ncbi.nlm.nih.gov/pubmed/37450011 http://dx.doi.org/10.1007/s00467-023-06079-6

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