Genotype-phenotype correlations and long-term efficacy of pamidronate therapy in patients with osteogenesis imperfecta

• Główni autorzy: Yunha Choi (Autor), Soojin Hwang (Autor), Gu-Hwan Kim (Autor), Beom Hee Lee (Autor), Han-Wook Yoo (Autor), Jin-Ho Choi (Autor)
• Format: Książka
• Wydane: Korean Society of Pediatric Endocrinology, 2022-03-01T00:00:00Z.
• Hasła przedmiotowe: article
• Dostęp online: Connect to this object online.

Purpose Osteogenesis imperfecta (OI) is a rare bone fragility disorder caused by defects in type 1 collagen biosynthesis. This study investigated the genotype-phenotype correlations and the efficacy of pamidronate therapy in patients with OI in a single academic center. Methods This study included 2...