Article
Hypophosphatasia diagnosis: current state of the art and proposed diagnostic criteria for children and adults.
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
Khan Aliya A, Brandi Maria Luisa, 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, Linglart Agnes, M'Hiri Iman, Marini Francesca, Nunes Mark E, Rockman-Greenberg Cheryl, Roux Christian, Seefried Lothar, Simmons Jill H, Starling Susan R, Ward Leanne M, Yao Liang, Brignardello-Petersen Romina, Lewiecki E Michael
Abstract excerpt
BACKGROUND: This manuscript provides a summary of the current evidence to support the criteria for diagnosing a child or adult with hypophosphatasia (HPP). The diagnosis of HPP is made on the basis of integrating clinical features, laboratory profile, radiographic features of the condition, and DNA analysis identifying the presence of a pathogenic variant of the tissue nonspecific alkaline phosphatase gene...
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