A rare mutation in hypophosphatasia: a case report of adult form and review of the literature

Hypophosphatasia is a rare inborn error of metabolism characterized by low serum alkaline phosphatase activity due to loss-of-function mutations in the gene encoding the tissue-nonspecific isoenzyme of alkaline phosphatase (TNSALP). Extracellular accumulation of TNSALP substrates leads to dento-osse...

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Detalles Bibliográficos
Autores principales: Galeano-Valle, Francisco, Vengoechea, Jaime, Galindo, Rodolfo J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Sociedade Brasileira de Endocrinologia e Metabologia 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10118836/
https://www.ncbi.nlm.nih.gov/pubmed/30864637
http://dx.doi.org/10.20945/2359-3997000000108

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10118836/
https://www.ncbi.nlm.nih.gov/pubmed/30864637
http://dx.doi.org/10.20945/2359-3997000000108

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