Multigenerational case examples of hypophosphatasia: Challenges in genetic counseling and disease management
Author:
Publisher
Elsevier BV
Subject
Endocrinology,Genetics,Molecular Biology
Reference35 articles.
1. Physiological role of alkaline phosphatase explored in hypophosphatasia;Whyte;Ann. N. Y. Acad. Sci.,2010
2. Study 011-10 Investigators. Natural History of Perinatal and Infantile Hypophosphatasia: A Retrospective Study;Whyte;J. Pediatr.,2019
3. Asfotase alfa treatment improves survival for perinatal and infantile hypophosphatasia;Whyte;J. Clin. Endocrinol. Metab.,2016
4. Burden of disease in adult patients with hypophosphatasia: results from two patient-reported surveys;Weber;Metabolism,2016
5. Hypophosphatasia: validation and expansion of the clinical nosology for children from 25years experience with 173 pediatric patients;Whyte;Bone.,2015
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1. A Delphi panel to build consensus on assessing disease severity and disease progression in adult patients with hypophosphatasia in the United States;Journal of Endocrinological Investigation;2024-01-18
2. The diagnosis of hypophosphatasia in children as a multidisciplinary effort: an expert opinion;Journal of Endocrinological Investigation;2023-09-26
3. Transition of young adults with metabolic bone diseases to adult care;Frontiers in Endocrinology;2023-03-17
4. Impact of discontinuing 5 years of enzyme replacement treatment in a cohort of 6 adults with hypophosphatasia: A case series;Bone Reports;2022-12
5. Diagnostic Approach to Patients with Low Serum Alkaline Phosphatase;Calcified Tissue International;2022-11-08
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