Impact of pediatric hypophosphatasia on behavioral health and quality of life

BACKGROUND: Hypophosphatasia (HPP) is a rare genetic disorder caused by loss-of-function mutations in the ALPL gene encoding tissue nonspecific alkaline phosphatase. It is characterized by defective bone mineralization associated with low alkaline phosphatase activity. Clinical features of pediatric...

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Detalles Bibliográficos
Autores principales: Pierpont, Elizabeth I., Simmons, Jill H., Spurlock, Katherine J., Shanley, Ryan, Sarafoglou, Kyriakie M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7881480/
https://www.ncbi.nlm.nih.gov/pubmed/33579333
http://dx.doi.org/10.1186/s13023-021-01722-7

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7881480/
https://www.ncbi.nlm.nih.gov/pubmed/33579333
http://dx.doi.org/10.1186/s13023-021-01722-7

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