高磷酸盐血症家族性肿瘤性钙质沉着症 : 一种罕见且具有挑战性的疾病的病例报告。
Mesh : Adult Biomarkers / blood C-Reactive Protein / metabolism Calcinosis / blood diagnosis genetics DNA / genetics DNA Mutational Analysis Female Fibroblast Growth Factor-23 Fibroblast Growth Factors / blood Genetic Testing Humans Hyperostosis, Cortical, Congenital / blood diagnosis genetics Hyperphosphatemia / blood diagnosis genetics Muscle, Skeletal / diagnostic imaging Mutation N-Acetylgalactosaminyltransferases / genetics metabolism Phosphates / blood Rare Diseases Tomography, X-Ray Computed Polypeptide N-acetylgalactosaminyltransferase
来 源:
DOI:10.1080/03009742.2019.1602883
PDF(Sci-hub)