Last Updated: 09/26/2026
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Found 115 publications
Long-term outcomes of elosulfase alfa enzyme replacement therapy in adults with MPS IVA: a sub-analysis of the Morquio A Registry Study (MARS).
Journal: Orphanet journal of rare diseases
Published: April 30, 2025
C-type natriuretic peptide and collagen X marker are aberrant in skeletal dysplasias.
Journal: Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research
Published: February 18, 2025
Evolution of sleep disordered breathing in infants with achondroplasia.
Journal: Sleep & breathing = Schlaf & Atmung
Published: October 23, 2024
Mutations in RNU4ATAC Are Associated With Chilblain-Like Lesions and Enhanced Type I Interferon Signalling.
Journal: European journal of immunology
Published: September 13, 2024
Development of a Weight-Band Dosing Approach for Vosoritide in Children with Achondroplasia Using a Population Pharmacokinetic Model.
Journal: Clinical pharmacokinetics
Published: March 14, 2024
Dominant missense variants in SREBF2 are associated with complex dermatological, neurological, and skeletal abnormalities.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: January 30, 2024
Midterm Outcomes of Multimodal Approach to Treating Severe Scoliosis in Patients With Osteogenesis Imperfecta.
Journal: The Journal of the American Academy of Orthopaedic Surgeons
Published: January 12, 2024
Tracheal Narrowing and Its Impact on Anesthesia Care in Patients With Morquio A (Mucopolysaccharidosis Type IVA): An Observational Study.
Journal: Anesthesia and analgesia
Published: October 20, 2023
RAB1A haploinsufficiency phenocopies the 2p14-p15 microdeletion and is associated with impaired neuronal differentiation.
Journal: American journal of human genetics
Published: August 03, 2023
The IMPACT survey: a mixed methods study to understand the experience of children, adolescents and adults with osteogenesis imperfecta and their caregivers.
Journal: Orphanet journal of rare diseases
Published: July 27, 2023
Last Updated: 09/26/2026