A Case of the Perinatal Form Hypophosphatasia Caused by a Novel Large Duplication of the ALPL Gene and Report of One Year Follow-up with Enzyme Replacement Therapy

Hypophosphatasia (HPP) is a rare disease caused by mutations in the ALPL gene encoding tissue-non-specific isoenzyme of alkaline phosphatase (TNSALP). Duplications of the ALPL gene account for fewer than 1% of the mutations causing HPP. It has been shown that asfotase alfa enzyme replacement treatme...

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Detalles Bibliográficos
Autores principales: Hacıhamdioğlu, Bülent, Özgürhan, Gamze, Pereira, Catarina, Tepeli, Emre, Acar, Gülşen, Cömert, Serdar
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Galenos Publishing 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6745457/
https://www.ncbi.nlm.nih.gov/pubmed/30468149
http://dx.doi.org/10.4274/jcrpe.galenos.2018.2018.0217

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