Clinical Practice Guidelines for Hypophosphatasia*

Hypophosphatasia (HPP) is a rare bone disease caused by inactivating mutations in the ALPL gene, which encodes tissue-nonspecific alkaline phosphatase (TNSALP). Patients with HPP have varied clinical manifestations and are classified based on the age of onset and severity. Recently, enzyme replaceme...

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Vydáno v:Clin Pediatr Endocrinol
Hlavní autoři: Michigami, Toshimi, Ohata, Yasuhisa, Fujiwara, Makoto, Mochizuki, Hiroshi, Adachi, Masanori, Kitaoka, Taichi, Kubota, Takuo, Sawai, Hideaki, Namba, Noriyuki, Hasegawa, Kosei, Fujiwara, Ikuma, Ozono, Keiichi
Médium: Artigo
Jazyk:Inglês
Vydáno: The Japanese Society for Pediatric Endocrinology 2020
Témata:
Special Report
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6958520/
https://ncbi.nlm.nih.gov/pubmed/32029969
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1297/cpe.29.9
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