Six-year clinical outcomes of enzyme replacement therapy for perinatal lethal and infantile hypophosphatasia in Korea: Two case reports

Hypophosphatasia (HPP) is a genetic disease caused by loss-of-function mutations in ALPL, which encodes tissue-nonspecific alkaline phosphatase (ALP). Early diagnosis and treatment of perinatal and infantile HPP are important because of their high mortality rates. Enzyme replacement therapy (ERT) us...

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Detalles Bibliográficos
Autores principales: Kim, Insung, Noh, Eu-Seon, Kim, Min-Sun, Jang, Ja-Hyun, Jeon, Tae Yeon, Choi, Hae Won, Cho, Sung Yoon
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Lippincott Williams & Wilkins 2023
Materias:
6200
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9907957/
https://www.ncbi.nlm.nih.gov/pubmed/36820543
http://dx.doi.org/10.1097/MD.0000000000032800

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9907957/
https://www.ncbi.nlm.nih.gov/pubmed/36820543
http://dx.doi.org/10.1097/MD.0000000000032800

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