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Orphanet Journal of Rare Diseases|July 3, 2025
Nitisinone desensitization protocol, case report of hereditary Tyrosinemia type 1 with successful treatment and outcomesMichael Vallejo, Valentina Villarreal, María Alejandra Guardiola, et al.
Orphanet Journal of Rare Diseases|July 4, 2025
The health-related quality of life of Brazilians with epidermolysis bullosaCamille Cristine Gomes Togo, Ana Paula Caio Zidório, Vivian Siqueira Santos Gonçalves, et al.
Orphanet Journal of Rare Diseases|July 4, 2025
Combined surgery with intramedullary rod fixation across the ankle for the treatment of Crawford IV congenital pseudarthrosis of the tibia: a long-term follow-up studyXiping Liu, Kun Liu, Guanghui Zhu
Orphanet Journal of Rare Diseases|July 2, 2025
Usefulness of levels of 2-methylbutyrylglycine and 2-ethylhydracrylic acid in urine for diagnosing 2-methylbutyrylglycinuriaHao Liu, Ming Xu, Min Chen, et al.
Orphanet Journal of Rare Diseases|July 2, 2025
Criteria to evaluate unmet health-related needs of persons living with rare diseases and their caregivers: rapid literature review and stakeholder consultationsZilke Claessens, Alice Vanneste, Charlotte Van Isterdael, et al.
Orphanet Journal of Rare Diseases|January 9, 2026
Navigating adulthood with PKU: metabolic outcomes, quality of life, and mental health 4.5 years post-transitionAntonia Albers, Nadine Kuniß, Christof Kloos, et al.
Orphanet Journal of Rare Diseases|December 22, 2025
Trends, lag and characteristics of rare disease drug approval in the USA and China, 1983-2022Shaohong Wang, Xin Liu, Yuzhen Zou, et al.
Orphanet Journal of Rare Diseases|February 12, 2026
Burden of hereditary angioedema: results from a multinational survey of caregivers for adult and pediatric patientsMaureen Watt, Inmaculada Martinez-Saguer, Angela Simon, et al.
Orphanet Journal of Rare Diseases|April 29, 2025
Co-segregation of the c.489+3A>G variant with p.Cys1400Ter pathogenic CFTR mutation in Cyprus: prevalence and clinical implicationsPanayiotis K Yiallouros, Pinelopi Anagnostopoulou, Panayiotis Kouis, et al.
Orphanet Journal of Rare Diseases|April 12, 2025
Are adult cystic fibrosis patients satisfied with medication treatment?Esen Deniz Akman, Nadir Yalçın, Oğuz Karcıoğlu, et al.
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