A two-year follow-up of asfotase alfa replacement in a patient with hypophosphatasia: clinical, biochemical, and radiological evaluation

Hypophosphatasia (HPP) is a rare disease with a high mortality rate in its severe forms. It is caused by mutations within the gene encoding the tissue-nonspecific alkaline phosphatase (TNSALP), an enzyme responsible for bone mineralization. In 2015, the Food and Drug Administration approved the use...

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Detalles Bibliográficos
Autores principales: Reis, Fernanda Salles, Gomes, Débora Cristiane, Arantes, Henrique Pierotti, Lazaretti-Castro, Marise
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Sociedade Brasileira de Endocrinologia e Metabologia 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10118956/
https://www.ncbi.nlm.nih.gov/pubmed/34033304
http://dx.doi.org/10.20945/2359-3997000000222

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10118956/
https://www.ncbi.nlm.nih.gov/pubmed/34033304
http://dx.doi.org/10.20945/2359-3997000000222

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