Katsuyuki Yokoi   Yoko Nakajima   Yasuko Shinkai   Yoshimi Sano   Mototaka Imamura   Tomoyuki Akiyama   Tetsushi Yoshikawa   Tetsuya Ito   Hiroki Kurahashi   
Molecular genetics and metabolism reports 21 100515-100515 2019年12月 [査読有り]
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 ...