Clinical and diagnostic features of Bartter and Gitelman syndromes

BACKGROUND: Bartter and Gitelman syndromes are autosomal recessive disorders of renal tubular salt handling. Due to their rarity, limited long-term data are available to inform prognosis and management. METHODS: Long-term longitudinal data were analysed for 45 children with pathogenic variants in SL...

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Detalles Bibliográficos
Autores principales: Walsh, Patrick R, Tse, Yincent, Ashton, Emma, Iancu, Daniela, Jenkins, Lucy, Bienias, Marc, Kleta, Robert, van’t Hoff, William, Bockenhauer, Detlef
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2018
Materias:
Rare Diseases
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6007694/
https://www.ncbi.nlm.nih.gov/pubmed/29942493
http://dx.doi.org/10.1093/ckj/sfx118

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