The changing world of skeletal dysplasia
Author:
Publisher
Elsevier BV
Subject
Developmental and Educational Psychology,Pediatrics, Perinatology and Child Health
Reference5 articles.
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2. Efficacy and safety of asfotase alfa in infants and young children with hypophosphatasia: a phase 2 open-label study;Hofmann;J Clin Endocrinol Metab,2019
3. Burosumab versus conventional therapy in children with X-linked hypophosphataemia: a randomised, active-controlled, open-label, phase 3 trial;Imel;Lancet,2019
4. C-type natriuretic peptide analogue therapy in children with achondroplasia;Savarirayan;N Engl J Med,2019
5. Skeletal maturation and long-bone growth patterns of patients with progeria: a retrospective study;Tsai;Lancet Child Adolesc Health,2020
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1. Clinical and genetic profiles of 985 Chinese families with skeletal dysplasia;Chinese Medical Journal;2023-04-17
2. Functional Validation of Osteoporosis Genetic Findings Using Small Fish Models;Genes;2022-01-30
3. Perspective of the GEMSTONE Consortium on Current and Future Approaches to Functional Validation for Skeletal Genetic Disease Using Cellular, Molecular and Animal-Modeling Techniques;Frontiers in Endocrinology;2021-11-30
4. Diagnostic utility of next-generation sequencing-based panel testing in 543 patients with suspected skeletal dysplasia;Orphanet Journal of Rare Diseases;2021-10-09
5. Current state of the art in treatment of Mendelian disease: Skeletal dysplasias;American Journal of Medical Genetics Part A;2021-09-06
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