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ba0005p445 | Other diseases of bone and mineral metabolism | ECTS2016

Clinical and genetic analysis of multiple endocrine neoplasia type 1-related primary hyperparathyroidism in Chinese: a single-center experience over ten years

Kong Jing , Wang Ou , Nie Min , Shi Jie , Hu Yingying , Jiang Yan , Li Mei , Xia Weibo , Meng Xunwu , Xing Xiaoping

Objective: Multiple endocrine neoplasia type 1-related PHPT (MHPT) differs in many aspects from sporadic PHPT (SHPT). The aims of the study were to summarize the clinical features of Chinese MHPT and compare the severity of the disease with SHPT.Design and methods: A total of 40 MHPT cases (27 sporadic, seven families) and 169 SHPT patients of Chinese descent were retrospectively analyzed. X-rays and ultrasound were used to assess the bone and urinary sy...

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ba0005p481 | Paediatric bone disease | ECTS2016

Mutation update and short-term outcome after treatment with active vitamin D₃ in Chinese patients with pseudo-vitamin D-deficiency rickets

Chi Yue , Sun Jing , Pang Li , Jiajue Ruizhi , Jiang Yan , Wang Ou , Li Mei , Xing Xiaoping , Hu Yingying , Zhou Xueying , Meng Xunwu , Xia Weibo

Pseudovitamin D-deficiency rickets (PDDR) is a rare autosomal recessive disorder resulting from a defect in renal 25-hydroxyvitamin D 1α-hydroxylase, which is encoded by the CYP27B1 gene. To our best knowledge, 48 mutations of the CYP27B1 gene have been identified so far. In the present study, we investigated CYP27B1 mutations in seven individuals from six separate families and identified nine different mutations: two novel missense mutations (G194R, R259L), three novel a...

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Bone Abstracts

Clinical and genetic analysis of multiple endocrine neoplasia type 1-related primary hyperparathyroidism in Chinese: a single-center experience over ten years

Mutation update and short-term outcome after treatment with active vitamin D₃ in Chinese patients with pseudo-vitamin D-deficiency rickets

BiosciAbstracts

Bone Abstracts

Clinical and genetic analysis of multiple endocrine neoplasia type 1-related primary hyperparathyroidism in Chinese: a single-center experience over ten years

Mutation update and short-term outcome after treatment with active vitamin D3 in Chinese patients with pseudo-vitamin D-deficiency rickets

BiosciAbstracts

Mutation update and short-term outcome after treatment with active vitamin D₃ in Chinese patients with pseudo-vitamin D-deficiency rickets