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...

Volledige beschrijving

Bewaard in:
Bibliografische gegevens
Gepubliceerd in:Clin Pediatr Endocrinol
Hoofdauteurs: Takagi, Mizuki, Kato, Shunsuke, Muto, Taichiro, Sano, Yoshimi, Akiyama, Tomoyuki, Takagi, Junko, Okumura, Akihisa, Iwayama, Hideyuki
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: The Japanese Society for Pediatric Endocrinology 2020
Onderwerpen:
Case Report
Online toegang: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
Tags: Voeg label toe
Geen labels, Wees de eerste die dit record labelt!

Gelijkaardige items