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...

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Publicat a:Clin Pediatr Endocrinol
Autors principals: Takagi, Mizuki, Kato, Shunsuke, Muto, Taichiro, Sano, Yoshimi, Akiyama, Tomoyuki, Takagi, Junko, Okumura, Akihisa, Iwayama, Hideyuki
Format: Artigo
Idioma:Inglês
Publicat: The Japanese Society for Pediatric Endocrinology 2020
Matèries:
Case Report
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC7348629/
https://ncbi.nlm.nih.gov/pubmed/32694888
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1297/cpe.29.115
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