Heterozygous mutation of SLC34A1 in patients with hypophosphatemic kidney stones and osteoporosis: a case report

Hypophosphatemic kidney stones with osteoporosis is a rare disease clinically. Mutations in the solute carrier family 34 member 1 gene (SLC34A1), encoding NaPi-IIa, are considered to be associated with this disease. In this report, a 38-year-old Chinese woman was diagnosed with hypophosphatemic kidn...

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Detalles Bibliográficos
Autores principales: Ma, Yuping, Lv, Haihong, Wang, Jue, Tan, Jiaojiao
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE Publications 2020
Materias:
Special issue: Rare Diseases: Advances in Diagnosis, Prevention, Treatment and Management
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7133400/
https://www.ncbi.nlm.nih.gov/pubmed/32216560
http://dx.doi.org/10.1177/0300060519896146

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7133400/
https://www.ncbi.nlm.nih.gov/pubmed/32216560
http://dx.doi.org/10.1177/0300060519896146

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