Associated Papers
Genetic skeletal disorders: phenotypic-genotypic characteristics and RhGH therapy responses of a pediatric cohort.
Huang Y et al.
Scientific Reports, 2025
40596606 (PubMed )
Supplement: 41598_2025_7570_MOESM2_ESM.xlsx › sheet1
Musculoskeletal and neurocognitive clinical significance of adult hypophosphatasia.
Kim SM et al.
Osteoporosis and Sarcopenia, 2023
Variations in Nomenclature of Clinical Variants between Annotation Tools.
Park KJ et al.
Laboratory Medicine, 2022
Clinical and genetic characteristics of hypophosphatasia in Chinese children.
Liu M et al.
Orphanet Journal of Rare Diseases, 2021
Case Report: Variations in the ALPL Gene in Chinese Patients With Hypophosphatasia.
Zhang Q et al.
Frontiers in Genetics, 2021
Novel heterozygous tissue-nonspecific alkaline phosphatase (TNAP) gene mutations causing lethal perinatal hypophosphatasia.
Chang KC et al.
Journal of Bone and Mineral Metabolism, 2012
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