Rare systemic diseases

ISSN: 1750-1172 (Online)

In this topical collection (149 articles)

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  1. Research

    Exploring pathway interactions to detect molecular mechanisms of disease: 22q11.2 deletion syndrome

    Woosub Shin, Martina Kutmon, Eleni Mina… Article:335
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  2. Research

    The combined prevalence of classified rare rheumatic diseases is almost double that of ankylosing spondylitis

    Judith Leyens, Tim Th. A. Bender, Martin Mücke… Article:326
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  3. Review

    Optimal practices for the management of hereditary transthyretin amyloidosis: real-world experience from Japan, Brazil, and Portugal

    Yukio Ando, Marcia Waddington-Cruz, Yoshiki Sekijima… Article:323
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  4. Research

    Mandibular involvement in SAPHO syndrome: a retrospective study

    Mu Wang, Yueting Li, Yihan Cao, Xinyu Lu, Yuchen Liu… Article:312
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  5. Research

    Clinical characteristics and therapeutic response of immunoglobulin G4-related disease: a retrospective study of 127 Chinese patients

    Wen An, Zhen Wu, Min Li, Haitian Yu, Xinyan Zhao… Article:307
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  6. Letter to the Editor

    Low-dose anti-IL 5 treatment in idiopathic hypereosinophilic syndrome: towards a precision medicine approach for remission maintenance

    Marco Caminati, Matteo Maule, Roberto Benoni… Article:302
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  7. Research

    Correlation of clinical signs and symptoms of Behçet’s disease with mean platelet volume (MPV) and red cell distribution width (RDW)

    Maryam Masoumi, Soraya Shadmanfar, Fereydoun Davatchi… Article:297
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  8. Research

    Dietary iron intake and anemia: food frequency questionnaire in patients with hereditary hemorrhagic telangiectasia

    Federica Cavalcoli, Alberto Gandini… Article:295
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  9. Research

    Health-related quality of life and health literacy in patients with systemic mastocytosis and mast cell activation syndrome

    Tobias Jürgen Schmidt, Julia Sellin… Article:295
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  10. Research

    Chromosomal abnormalities related to fever of unknown origin in a Chinese pediatric cohort and literature review

    Bijun Sun, Mi Yang, Jia Hou, Wenjie Wang, Wenjing Ying… Article:292
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  11. Research

    Expanding the clinical and genetic spectrum of Heimler syndrome

    Feng-Juan Gao, Fang-Yuan Hu, Ping Xu, Yu-He Qi… Article:290
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  12. Research

    Renal phenotypes correlate with genotypes in unrelated individuals with tuberous sclerosis complex in China

    Cong Luo, Ye Zhang, Yu-shi Zhang, Ming-Xin Zhang… Article:288
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  13. Research

    Patient-reported outcomes on familial amyloid polyneuropathy (FAP)

    Fabian J. Bolte, Christel Langenstroer, Frauke Friebel… Article:287
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  14. Research

    Molecular and phenotypic spectrum of cardio-facio-cutaneous syndrome in Chinese patients

    Biyun Feng, Xin Li, Qianwen Zhang, Yirou Wang… Article:284
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  15. Research

    Abdominal fat pad biopsies exhibit good diagnostic accuracy in patients with suspected transthyretin amyloidosis

    Hedvig Paulsson Rokke, Nima Sadat Gousheh… Article:278
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  16. Research

    Sleep and physical activity patterns in adults and children with Bardet–Biedl syndrome

    Jeremy Pomeroy, Jeffrey J. VanWormer, Jill R. Meilahn… Article:276
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  17. Research

    “The chameleon among diseases” - an explorative view of sarcoidosis and identification of the consequences for affected patients and relatives using qualitative interviews

    Charlotte Hilker, Johanna Weis, Stefanie Ziehfreund… Article:276
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  18. Research

    Poor prognostic factors in patients with newly diagnosed intestinal Adamantiades-Behçet’s disease in the Shanghai Adamantiades-Behçet’s disease database: a prospective cohort study

    Liang Zhang, Yun Tian, Jing-Fen Ye, Chen-Hong Lin… Article:274
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  19. Research

    Characterization of hearing-impairment in Generalized Arterial Calcification of Infancy (GACI)

    Elizabeth H. Theng, Carmen C. Brewer, Ralf Oheim… Article:273
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  20. Research

    A clinicopathologic study of malignancy in VCP-associated multisystem proteinopathy

    Alyaa Shmara, Mari Perez-Rosendahl, Kady Murphy… Article:272
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