Disease burden by

• Tác giả: Kathryn M Dahir, Shona Fang, Cheryl R Greenberg, Wolfgang Högler, Priya S Kishnani, Agnès Linglart, Gabriel Á Martos-Moreno, William R Mowrey, Keiichi Ozono, Anna Petryk, Lothar Seefried
• Ngôn ngữ: eng
• Ký hiệu phân loại: 616.851 *Huntington disease
• Thông tin xuất bản: England : Journal of medical genetics , 2025
• Bộ sưu tập: NCBI
• ID: 200763

Tóm tắt

 BACKGROUND: Hypophosphatasia (HPP) is a rare metabolic disease caused by autosomal dominant or recessive inheritance of METHODS: Patients were included if they had one or more RESULTS: Of 685 included patients, 568 (82.9%) had one CONCLUSION: HPP disease burden is high in patients with HPP, regardless of TRIAL REGISTRATION NUMBER: NCT02306720
  EUPAS13514.