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Odontohypophosphatasia treated with asfotase alfa enzyme replacement therapy in a toddler: a case report
Hypophosphatasia (HPP) is a rare skeletal disorder caused by loss-of-function mutations in Alkaline Phosphatase, Biomineralization associated (ALPL) gene that encodes tissue-nonspecific alkaline phosphatase. Odontohypophosphatasia (odonto-HPP), a mild form of HPP, is characterized only by oral manif...
Autores principales: | Takagi, Mizuki, Kato, Shunsuke, Muto, Taichiro, Sano, Yoshimi, Akiyama, Tomoyuki, Takagi, Junko, Okumura, Akihisa, Iwayama, Hideyuki |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
The Japanese Society for Pediatric Endocrinology
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7348629/ https://www.ncbi.nlm.nih.gov/pubmed/32694888 http://dx.doi.org/10.1297/cpe.29.115 |
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