Advancements in Understanding and Managing Hypophosphatasia: From Clinical Spectrum and Diagnosis to Therapeutic Strategies
نویسندگان
1 Department of Orthopedics, Bone and Joint Reconstruction Research Center, School of Medicine, Iran University of Medical Sciences, Tehran, Iran.
2 Department of Orthopedics, Bone and Joint Reconstruction Research Center, School of Medicine, Iran University of Medical Sciences, Tehran, Iran.
3 Department of Orthopedics, Bone and Joint Reconstruction Research Center, School of Medicine, Iran University of Medical Sciences, Tehran, Iran.
4 Department of Orthopedics, Bone and Joint Reconstruction Research Center, School of Medicine, Iran University of Medical Sciences, Tehran, Iran.
doi
10.32598/JROSJ.9.4.963.3چکیده
Background: Hypophosphatasia (HPP) is a rare, inherited metabolic disorder caused by mutations in the gene responsible for producing the tissue-nonspecific isoenzyme of alkaline phosphatase (TNSALP). The clinical spectrum of HPP ranges from severe, life-threatening forms in infants to milder forms in adults, primarily affecting dental health and bone integrity. Objectives: This ...
