Successful Medical Therapy for Hypophosphatemic Rickets due to Mitochondrial Complex I Deficiency Induced de Toni-Debré-Fanconi Syndrome

Primary de Toni-Debré-Fanconi syndrome is a non-FGF23-mediated hypophosphatemic disorder due to a primary defect in renal proximal tubule cell function resulting in hyperphosphaturia, renal tubular acidosis, glycosuria, and generalized aminoaciduria. The orthopaedic sequela and response to treatment...

Descripción completa

Detalles Bibliográficos
Autores principales: Bowden, Sasigarn A., Patel, Hiren P., Beebe, Allan, McBride, Kim L.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2013
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3872385/
https://www.ncbi.nlm.nih.gov/pubmed/24386581
http://dx.doi.org/10.1155/2013/354314

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3872385/
https://www.ncbi.nlm.nih.gov/pubmed/24386581
http://dx.doi.org/10.1155/2013/354314

Ejemplares similares