المؤلفون: Farman MR; Department of Paediatrics and Adolescent Medicine, Johannes Kepler University Linz, Linz, Austria., Rehder C; Duke University Medical Center, Department of Pathology, Durham, USA., Malli T; Laboratory for Molecular Genetic Diagnostics, Ordensklinikum Linz, Linz, Austria., Rockman-Greenberg C; Department of Pediatrics and Child Health Max Rady College of Medicine, Rady Faculty of Health Sciences, Winnipeg, Canada., Dahir K; Vanderbilt University Medical Center, Program for Metabolic Bone Disorders, Nashville, TN, USA., Martos-Moreno GÁ; Departments of Pediatrics & Pediatric Endocrinology, Hospital Infantil Universitario Niño Jesús, Madrid, Spain; Department of Pediatrics, Universidad Autónoma de Madrid, Madrid, Spain; CIBER Fisiopatología de la Obesidad y Nutrición, ISCIII, Madrid, Spain, Linglart A; AP-HP, Paris Saclay University, INSERM, Bicêtre Paris Saclay hospital, Le Kremlin-Bicêtre, France, Ozono K; Department of Pediatrics, Osaka University Graduate School of Medicine, Osaka, Japan, Seefried L; Julius-Maximilian University, Würzburg, Germany., Del Angel G; Alexion, AstraZeneca Rare Disease, Boston, MA, USA, Webersinke G; Laboratory for Molecular Genetic Diagnostics, Ordensklinikum Linz, Linz, Austria., Barbazza F; Department of Paediatrics and Adolescent Medicine, Johannes Kepler University Linz, Linz, Austria., John LK; Department of Paediatrics and Adolescent Medicine, Johannes Kepler University Linz, Linz, Austria., Delana Mudiyanselage SMA; Department of Paediatrics and Adolescent Medicine, Johannes Kepler University Linz, Linz, Austria., Högler F; Department of Paediatrics and Adolescent Medicine, Johannes Kepler University Linz, Linz, Austria., Nading EB; Duke University Medical Center, Division of Medical Genetics, Department of Pediatrics, Durham, USA, Huggins E; Duke University Medical Center, Division of Medical Genetics, Department of Pediatrics, Durham, USA, Rush ET; Division of Clinical Genetics, Children's Mercy Hospital Kansas City, Kansas City, MO, USA; Department of Internal Medicine, University of Kansas School of Medicine, Kansas City, KS, USA; Department of Pediatrics, University of Missouri – Kansas City School of Medicine, Kansas City, MO, USA, El-Gazzar A; Department of Paediatrics and Adolescent Medicine, Johannes Kepler University Linz, Linz, Austria., Kishnani PS; Duke University Medical Center, Division of Medical Genetics, Department of Pediatrics, Durham, USA, Högler W; Department of Paediatrics and Adolescent Medicine, Johannes Kepler University Linz, Linz, Austria.

المصدر: Bone [Bone] 2024 Jan; Vol. 178, pp. 116947. Date of Electronic Publication: 2023 Oct 26.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Elsevier Science Country of Publication: United States NLM ID: 8504048 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-2763 (Electronic) Linking ISSN: 18732763 NLM ISO Abbreviation: Bone Subsets: MEDLINE

مواضيع طبية MeSH: Alkaline Phosphatase*/genetics , Alkaline Phosphatase*/chemistry , Hypophosphatasia*/genetics , Hypophosphatasia*/pathology, Humans ; Mutation/genetics ; Artificial Intelligence ; Delayed Diagnosis