JOURNAL OF BONE AND MINERAL METABOLISM, cilt.39, sa.4, ss.598-605, 2021 (SCI-Expanded)
Introduction Hypophosphatasia (HPP) is caused by mutations in the ALPL that encodes the tissue-nonspecific isoenzyme of alkaline phosphatase (ALP). Clinical manifestations range from extreme life-threatening lethal forms to no signs or symptoms at all.