Clinical, biochemical, and pathophysiological analysis of SLC34A1 mutations

Mutations in SLC34A1, encoding the proximal tubular sodium–phosphate transporter NaPi‐IIa, may cause a range of clinical phenotypes including infantile hypercalcemia, a proximal renal Fanconi syndrome, which are typically autosomal recessive, and hypophosphatemic nephrolithiasis, which may be an aut...

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Detalhes bibliográficos
Publicado no:Physiol Rep
Main Authors: Fearn, Amy, Allison, Benjamin, Rice, Sarah J., Edwards, Noel, Halbritter, Jan, Bourgeois, Soline, Pastor‐Arroyo, Eva M., Hildebrandt, Friedhelm, Tasic, Velibor, Wagner, Carsten A., Hernando, Nati, Sayer, John A., Werner, Andreas
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2018
Assuntos:
Case Reports
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6010730/
https://ncbi.nlm.nih.gov/pubmed/29924459
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.14814/phy2.13715
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