Marked motor function improvement in a 32-year-old woman with childhood-onset hypophosphatasia by asfotase alfa therapy: Evaluation based on standardized testing batteries used in Duchenne muscular dystrophy clinical trials

Hypophosphatasia (HPP) is a rare disorder resulting from biallelic loss-of-function variants or monoallelic dominant negative variants in the ALPL gene. We herein describe the clinical outcome of a 32-year-old woman with childhood-onset HPP caused by compound heterozygous variants in ALPL. Her chief...

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Detalles Bibliográficos
Autores principales: Nishizawa, Hitomi, Sato, Yoshihiko, Ishikawa, Masumi, Arakawa, Yuko, Iijima, Mari, Akiyama, Tomoyuki, Takano, Kyoko, Watanabe, Atsushi, Kosho, Tomoki
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2020
Materias:
Short Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7494508/
https://www.ncbi.nlm.nih.gov/pubmed/32983894
http://dx.doi.org/10.1016/j.ymgmr.2020.100643

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