Neonatal lethal hypophosphatasia: A case report and review of literature

RATIONALE: Hypophosphatasia (HPP) is a very rare metabolic bone disease caused by loss-of-function mutations in the ALPL gene encoding the tissue nonspecific alkaline phosphatase. The severe neonatal form is considered lethal but insights into manifestations of the disease can help to increase our k...

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Detalles Bibliográficos
Autores principales: Castells, Laura, Cassanello, Pía, Muñiz, Felix, de Castro, María-José, Couce, María L.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer Health 2018
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6283130/
https://www.ncbi.nlm.nih.gov/pubmed/30508915
http://dx.doi.org/10.1097/MD.0000000000013269

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6283130/
https://www.ncbi.nlm.nih.gov/pubmed/30508915
http://dx.doi.org/10.1097/MD.0000000000013269

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