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...

Descripción completa

Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2018
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6010730/
https://www.ncbi.nlm.nih.gov/pubmed/29924459
http://dx.doi.org/10.14814/phy2.13715

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6010730/
https://www.ncbi.nlm.nih.gov/pubmed/29924459
http://dx.doi.org/10.14814/phy2.13715

Ejemplares similares