Adult hypophosphatasia with a novel ALPL mutation: Report of an Indian kindred

Hypophosphatasia is an inborn error in metabolism characterized by low serum alkaline phosphatase (ALP) activity resulting from deactivating mutations in TNSALP (also known as ALPL), the gene that encodes the ‘tissue-specific’ isoenzyme of ALP. The disease exhibits significant clinical heterogeneity...

Descripción completa

Detalles Bibliográficos
Autores principales: Bhadada, Sanjay K., Pal, Rimesh, Dhiman, Vandana, Alonso, Nerea, Ralston, Stuart H., Kaur, Simran, Gupta, Rajat
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6997823/
https://www.ncbi.nlm.nih.gov/pubmed/32025537
http://dx.doi.org/10.1016/j.bonr.2020.100247

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6997823/
https://www.ncbi.nlm.nih.gov/pubmed/32025537
http://dx.doi.org/10.1016/j.bonr.2020.100247

Ejemplares similares