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Orphanet Journal of Rare Diseases|May 26, 2025
Current status of the immunogenicity of enzyme replacement therapy in fabry diseaseJorge F Gómez-Cerezo, Julián Fernández-Martín, Miguel Ángel Barba-Romero, et al.
Orphanet Journal of Rare Diseases|May 26, 2025
Associations of VEGF-D levels with clinical manifestations in lymphangioleiomyomatosis: a cross-sectional analysis of 631 casesLuning Yang, Hanghang Wang, Chongsheng Cheng, et al.
Orphanet Journal of Rare Diseases|June 5, 2025
Oral phenotype in SATB2-associated syndrome: cross-sectional study of the French cohortNancy Vegas, Marlène Rio, Pauline Adnot, et al.
Orphanet Journal of Rare Diseases|May 26, 2025
Immune thrombocytopenia in Kabuki syndrome, a comparison with non-Kabuki cases in the UK paediatric ITP registryLianna Reynolds, Benjamin Williams, Gerard Gurumurthy, et al.
Orphanet Journal of Rare Diseases|June 3, 2025
Sickle cell health awareness, perspectives and experiences (SHAPE) survey: perspectives on sickle cell disease (SCD) from healthcare providers in India, Malaysia, and ThailandRoy Gomez, Annabel Su
Orphanet Journal of Rare Diseases|June 3, 2025
Integrative molecular subtyping and diagnostic model construction for Moyamoya disease based on diverse programmed cell death gene patternsQikai Tang, Chenfeng Ma, Hu Li, et al.
Orphanet Journal of Rare Diseases|June 6, 2025
The association of body image with quality of life, psychological assistance and social support in neurofibromatosis type 1 patients: a cross-sectional studyDaniel Muñoz, Mercè Jodar, Laia Valls, et al.
Orphanet Journal of Rare Diseases|May 26, 2025
Phenotypic study of humanized mice carrying the PAH deep intronic variant c.1199+502A>TChuan Zhang, Yousheng Yan, Bingbo Zhou, et al.
Orphanet Journal of Rare Diseases|June 5, 2025
Reflection on clinical and methodological issues in rare disease clinical trialsJohan Verbeeck, Martin Geroldinger, Joakim Nyberg, et al.
Orphanet Journal of Rare Diseases|May 28, 2025
Unlocking access: a comprehensive analysis of medicines accessibility for rare diseases in ThailandSiriwat Suwattanapreeda, Sanita Hirunrassamee, Chaoncin Sooksriwong, et al.
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