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Orphanet Journal of Rare Diseases|June 3, 2026
Characterization of two ultra-rare CFTR variants, P.Leu999del and P.Glu1104Lys, with unknown theratyping profilesTereza Dousova, Lucie Borek-Dohalska, Stepanka Novotna, et al.
Orphanet Journal of Rare Diseases|June 3, 2026
A novel SERPING1 splice-site variant (c.1029 + 2T > A) causing hereditary angioedema type I: functional characterization and clinical analysisWeili Guo, Xu Yang, Wenjin Du, et al.
Orphanet Journal of Rare Diseases|May 30, 2026
Paget's disease of bone: pathogenesis, ocular manifestations, and therapeutic strategiesBei Li, Yifan Kang
Orphanet Journal of Rare Diseases|May 30, 2026
Age-related symptom clustering in pediatric hypermobility spectrum disorders: a scoping reviewPhoebe Pochcial, Sarah Cohen Solomon, Katelyn A Bruno, et al.
Orphanet Journal of Rare Diseases|June 3, 2026
Treatment goals for adults with early treated PKU should be determined by evidence-based shared decision making between patients and their medical teamMirjam Langeveld, Sandra Sirrs, Robin Lachman, et al.
Orphanet Journal of Rare Diseases|June 5, 2026
Solitary infantile myofibromatosis of the extremities: a multicenter case series with descriptive analysis of recurrence and β-catenin expressionHüseyin Emre Tepedelenli̇oğlu, Mustafa Onur Karaca, Şefik Murat Arikan, et al.
Orphanet Journal of Rare Diseases|June 6, 2026
Management of acute metabolic decompensation in maple syrup urine disease: guidance based on international clinical practiceAude Servais, Marie Therese Abi-Wardé, Jean-Baptiste Arnoux, et al.
Orphanet Journal of Rare Diseases|May 20, 2026
Real-world treatment patterns and clinical burden of patients with hereditary angioedema treated with long-term prophylaxisWilliam Lumry, Art Zbrozek, Philippe Thompson-Leduc, et al.
Orphanet Journal of Rare Diseases|May 19, 2026
Access to orphan drugs in adults with inherited metabolic diseases in Switzerland: a single-center retrospective cohort studyGiovanni De Antoni, Camille Kumps, Jérôme Berger, et al.
Orphanet Journal of Rare Diseases|May 21, 2026
A comprehensive approach to users from a Brazilian clinical genetics service: an observational studyDéborah Domeneghetti de Francisco, Isabela Mayá Wayhs Silva, Carlos Eduardo Steiner, et al.
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