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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...
Autores principales: | Copelovitch, Lawrence, Kaplan, Bernard S. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2010
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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 |
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