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An expanded syndrome of dRTA with hearing loss, hyperoxaluria and beta2-microglobulinuria

We describe a 7-month-old male with atypical features of autosomal recessive distal renal tubular acidosis (dRTA) with sensorineural hearing loss. Uncharacteristically, he presented with mild acidosis, hypokalaemia and hypocalciuria as well as unilateral sensorineural hearing loss. Subsequent invest...

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Detalles Bibliográficos
Autores principales: Copelovitch, Lawrence, Kaplan, Bernard S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2010
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4421698/
https://www.ncbi.nlm.nih.gov/pubmed/25984047
http://dx.doi.org/10.1093/ndtplus/sfq123