Article
The challenge of hypophosphatasia diagnosis in adults: results from the HPP International Working Group Literature Surveillance.
Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA - 1 Mar 2024
Brandi Maria Luisa, Khan Aliya A, Rush Eric T, Ali Dalal S, Al-Alwani Hatim, Almonaei Khulod, Alsarraf Farah, Bacrot Severine, Dahir Kathryn M, Dandurand Karel, Deal Chad, Ferrari Serge Livio, Giusti Francesca, Guyatt Gordon, Hatcher Erin, Ing Steven W, Javaid Muhammad Kassim, Khan Sarah, Kocijan Roland, Lewiecki E Michael, Linglart Agnes, M'Hiri Iman, Marini Francesca, Nunes Mark E, Rockman-Greenberg Cheryl, Seefried Lothar, Simmons Jill H, Starling Susan R, Ward Leanne M, Yao Liang, Brignardello-Petersen Romina, Roux Christian
Abstract excerpt
Hypophosphatasia (HPP) is an inborn error of metabolism caused by reduced or absent activity of the tissue non-specific alkaline phosphatase (TNSALP) enzyme, resulting from pathogenic variants in the ALPL gene. Clinical presentation of HPP is highly variable, including lethal and severe forms in neonates and infants, a benign perinatal form, mild forms manifesting in adulthood, and odonto-HPP. Diagnosis of HPP...
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