Rare systemic diseases

ISSN: 1750-1172 (Online)

In this topical collection (149 articles)

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  1. Research

    Altered expressions of CXCR4 and CD26 on T-helper lymphocytes in hereditary hemorrhagic telangiectasia

    Alexandre Guilhem, Pierre Portalès… Article:511
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  2. Research

    Predictors of heart failure symptoms in hereditary hemorrhagic telangiectasia patients with hepatic arteriovenous malformations

    Lucas R. Cusumano, Joseph A. Tesoriero… Article:478
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  3. Research

    High rate of autonomic neuropathy in Cornelia de Lange Syndrome

    M. J. Pablo, P. Pamplona, M. Haddad, I. Benavente… Article:458
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  4. Research

    Development of the Myasthenia Gravis (MG) Symptoms PRO: a case study of a patient-centred outcome measure in rare disease

    Sophie Cleanthous, Ann-Christin Mork, Antoine Regnault… Article:457
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  5. Review

    Development of therapies for rare genetic disorders of GPX4: roadmap and opportunities

    Dorian M. Cheff, Alysson R. Muotri, Brent R. Stockwell… Article:446
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  6. Research

    New insight into the features of Behçet’s disease with gastrointestinal ulcer: a cross-sectional observational study

    Jing-Fen Ye, Cheng-Cheng Hou, Hua-Fang Bao… Article:444
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  7. Research

    Novel alterations in IFT172 and KIFAP3 may induce basal cell carcinoma

    Shoko Onodera, Nana Morita, Yuriko Nakamura… Article:443
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  8. Position statement

    Rare disease education in Europe and beyond: time to act

    Birute Tumiene, Harm Peters, Bela Melegh… Article:441
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  9. Research

    NGLY1 deficiency: estimated incidence, clinical features, and genotypic spectrum from the NGLY1 Registry

    Caroline R. Stanclift, Selina S. Dwight, Kevin Lee… Article:440
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  10. Research

    Systemic amyloidosis journey from diagnosis to outcomes: a twelve-year real-world experience of a single center in a middle-income country

    Roberta Shcolnik Szor, Fabio Fernandes… Article:425
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  11. Position statement

    Expert opinion on monitoring symptomatic hereditary transthyretin-mediated amyloidosis and assessment of disease progression

    David Adams, Vincent Algalarrondo, Michael Polydefkis… Article:411
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  12. Research

    Randomized, double-blind, placebo-controlled, crossover trial of oral doxycycline for epistaxis in hereditary hemorrhagic telangiectasia

    K. P. Thompson, J. Sykes, P. Chandakkar, P. Marambaud… Article:405
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  13. Research

    Utility of modified Rankin Scale for brain vascular malformations in hereditary hemorrhagic telangiectasia

    K. P. Thompson, J. Nelson, H. Kim, S. M. Weinsheimer… Article:390
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  14. Research

    Work productivity and activity in patients with SAPHO syndrome: a cross-sectional observational study

    Chen Li, Heng Xu, Liang Gong, Afang Wang, Xia Dong… Article:381
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  15. Review

    Orthodontic and dentofacial orthopedic treatments in patients with ectodermal dysplasia: a systematic review

    Marina Cerezo-Cayuelas, Amparo Pérez-Silva… Article:376
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  16. Research

    The frequency of rare and monogenic diseases in pediatric organ transplant recipients in Italy

    Tiziana Vaisitti, Daniela Peritore, Paola Magistroni… Article:374
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  17. Research

    Limited efficacy of tocilizumab in adult patients with secondary hemophagocytic lymphohistiocytosis: a retrospective cohort study

    Ju Yeon Kim, Miso Kim, Jin Kyun Park, Eun Bong Lee… Article:363
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  18. Letter to the Editor

    Diagnostic testing for SARS-CoV-2 infection in HHT patients: nasopharyngeal versus oropharyngeal swab

    Fabio Pagella, Roberta Lizzio, Sara Ugolini… Article:350
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  19. Position statement

    Recommendations for pre-symptomatic genetic testing for hereditary transthyretin amyloidosis in the era of effective therapy: a multicenter Italian consensus

    M. Grandis, L. Obici, M. Luigetti, C. Briani… Article:348
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  20. Research

    Behçet’s disease in Wales: an epidemiological description of national surveillance data

    Annie Ashman, David Tucker, Ceri Williams… Article:347
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