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Orphanet Journal of Rare Diseases|May 12, 2025
Age-related neutrophil activation in Hermansky-Pudlak Syndrome Type-1Lourdes Marinna Caro-Rivera, Sonya Malavez-Cajigas, Mercedes Lacourt-Ventura, et al.
Orphanet Journal of Rare Diseases|May 16, 2025
Caregivers' experiences and challenges of the diagnostic odyssey in Dravet syndromeJan Domaradzki, Dariusz Walkowiak,
Orphanet Journal of Rare Diseases|May 19, 2025
A perioperative nursing care protocol for patients with spinal muscular atrophy (SMA) type II or type III undergoing spinal surgery: a 4-year experience in 24 patientsGaoyang Li, Kexin Xu, Di Liu, et al.
Orphanet Journal of Rare Diseases|May 7, 2025
The prevalence of spontaneous pneumothorax in patients with BHD syndrome: a systematic review and meta-analysisYanan Zhang, Yuling Wang, Jinxia Wang, et al.
Orphanet Journal of Rare Diseases|April 24, 2025
Analysis of genomic ancestry and characterization of a new variant in MPS type VIIAndreza Juliana Moreira da Costa, Isabel Cristina Neves de Souza, Raimunda Helena Feio, et al.
Orphanet Journal of Rare Diseases|May 3, 2025
Overall survival among patients with activated phosphoinositide 3-kinase delta syndrome (APDS)Malena Mahendran, Julia E M Upton, Ramya Ramasubramanian, et al.
Orphanet Journal of Rare Diseases|May 6, 2025
Global variations in diagnostic methods and epidemiological estimates in Pompe disease: findings from a scoping reviewRoberto Giugliani, Faryn Solomon, Hani Kushlaf, et al.
Orphanet Journal of Rare Diseases|April 25, 2025
Initial Psychometric Evaluation of the Barth Syndrome Symptom Assessment (BTHS-SA) for Adolescents and Adults in a Phase 2 Clinical StudyChad Gwaltney, Alan Shields, Emily Love, et al.
Orphanet Journal of Rare Diseases|April 21, 2025
Extensive and persistent tongue ulceration is an early character of dyskeratosis congenitaXuefeng Zhang, Hongxia Dan, Yu Zhou, et al.
Orphanet Journal of Rare Diseases|April 24, 2025
Newborn screening facilitates early theranostics and improved spinal muscular atrophy outcome: five-year real-world evidence from TaiwanChen-Hua Wang, Ting-Rong Hsu, Mei-Ying Liu, et al.
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