A case of perinatal hypophosphatasia with a novel mutation in the ALPL gene: clinical course and review of the literature

Hypophosphatasia (HPP) is a metabolic bone disease characterized by failure of bone calcification and vitamin B6 dependent seizures. It is caused by loss-of-function mutations in the ALPL gene. A newborn girl required respiratory support by nasal-directional positive airway pressure at birth, and py...

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Detalles Bibliográficos
Autores principales: Oyachi, Maki, Harada, Daisuke, Sakamoto, Natsuko, Ueyama, Kaoru, Kondo, Kawai, Kishimoto, Kanako, Izui, Masafumi, Nagamatsu, Yuiko, Kashiwagi, Hiroko, Yamamuro, Miho, Tamura, Makoto, Kikuchi, Shin, Akiyama, Tomoyuki, Michigami, Toshimi, Seino, Yoshiki, Namba, Noriyuki
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Japanese Society for Pediatric Endocrinology 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6073057/
https://www.ncbi.nlm.nih.gov/pubmed/30083035
http://dx.doi.org/10.1297/cpe.27.179

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6073057/
https://www.ncbi.nlm.nih.gov/pubmed/30083035
http://dx.doi.org/10.1297/cpe.27.179

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