Clinical and genetic aspects of mild hypophosphatasia in Japanese patients

BACKGROUND: Hypophosphatasia (HPP) is a rare inborn error of metabolism that results from a dysfunctional tissue non-specific alkaline phosphatase enzyme (TNSALP). Although genotype-phenotype correlations have been described in HPP patients, only sparse information is currently available on the gene...

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Detalles Bibliográficos
Autores principales: Yokoi, Katsuyuki, Nakajima, Yoko, Shinkai, Yasuko, Sano, Yoshimi, Imamura, Mototaka, Akiyama, Tomoyuki, Yoshikawa, Tetsushi, Ito, Tetsuya, Kurahashi, Hiroki
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2019
Materias:
Research Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6796780/
https://www.ncbi.nlm.nih.gov/pubmed/31641588
http://dx.doi.org/10.1016/j.ymgmr.2019.100515

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6796780/
https://www.ncbi.nlm.nih.gov/pubmed/31641588
http://dx.doi.org/10.1016/j.ymgmr.2019.100515

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