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

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...

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Detalles Bibliográficos
Autores principales: Choi, Yunha, Hwang, Soojin, Kim, Gu-Hwan, Lee, Beom Hee, Yoo, Han-Wook, Choi, Jin-Ho
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Korean Society of Pediatric Endocrinology 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8984751/
https://www.ncbi.nlm.nih.gov/pubmed/35073670
http://dx.doi.org/10.6065/apem.2142144.072