Editorial: Rare diseases: from basic science to clinical practice and public health by Urtė Oniūnaitė, Ozge Yilmaz, Rasa Ugenskiene, Lina Jankauskaite

Subjects: “…rare diseases (RD)…”
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Transcending the burden: exploring the psychosocial impact of rare diseases on affected communities in Africa by Olalekan John Okesanya, Emery Manirambona, Edet Edu, Deborah Oluwaseun Shomuyiwa, Mohamed Mustaf Ahmed, Bonaventure Michael Ukoaka, Don Lucero-Prisno Eliseo

Subjects: “…Rare diseases…”
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Knowledge and attitudes about rare genetic diseases among practitioners of oral medicine/pathology in Brazil: a cross-sectional study by Samuel Trezena, Samuel Trezena, Daniella Reis Barbosa Martelli, Paulo Rogério Ferreti Bonan, Edgard Graner, Lívia Maria Ferreira Sobrinho, Faizan Alawi, Ricardo D. Coletta, Hercílio Martelli-Júnior, Hercílio Martelli-Júnior, Hercílio Martelli-Júnior

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Criteria to evaluate unmet health-related needs of persons living with rare diseases and their caregivers: rapid literature review and stakeholder consultations by Zilke Claessens, Alice Vanneste, Charlotte Van Isterdael, Charlotte Verbeke, Io Wens, Isabelle Huys

Subjects: “…Rare diseases…”
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MENINGOCOCCAL MENINGITIS WITH ARNOLD-CHIARI MALFORMATION: CASE REPORT by Kramar Lyubov Vasilievna, Larina Tatyana Yurievna, Khlynina Yuliya Olegovna

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Musculoskeletal Manifestations of Rare Lymphoproliferative Neoplasms: A Retrospective Case Report of Four Cases by Meagan E Tibbo, Max C Baron, Alina Syros, Jacob Cohen, H Thomas Temple, Brooke Crawford

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Patient-reported outcome claims in European and United States orphan drug approvals by Szymon Jarosławski, Pascal Auquier, Borislav Borissov, Claude Dussart, Mondher Toumi

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The application of Large Language Models to the phenotype-based prioritization of causative genes in rare disease patients by Şenay Kafkas, Marwa Abdelhakim, Azza Althagafi, Sumyyah Toonsi, Malak Alghamdi, Paul N. Schofield, Robert Hoehndorf

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Applying artificial intelligence to rare diseases: a literature review highlighting lessons from Fabry disease by Dominique P. Germain, David Gruson, Marie Malcles, Nicolas Garcelon

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Realising the potential impact of artificial intelligence for rare diseases – A framework by Tudor Groza, Chun-Hung Chan, David A. Pearce, Gareth Baynam

Subjects: “…Rare diseases…”
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International Status of Using Digital and Intelligent Technology to Ensure Access to Medication of Rare Diseases and Prospects for System Improvement in China by ZHAO Qi, FU Yihan, SUN Jing

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A Qualitative Investigation into the Determinants of Unfulfilled Needs in Caregivers of Patients with Phenylketonuria by Zheng YJ, Hou YC, Zhao H, Wang XY, Liu YD, Li L, Yu L, Guo MM

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Transthyretin amyloid cardiomyopathy in France: A cross-sectional multi-centre study (333 patients) by Thibaud Damy, Erwan Donal, Olivier Lairez, Jean-Christophe Eicher, Mounira Karoubi, Jean-Noël Trochu, Jocelyn Inamo, Gilbert Habib, François Roubille, Albert Hagège, Flore Morio, Eve Cariou, Jérôme Adda, Vincent Algalarrondo, Agathe Coste, Mathilde Bartoli, Jérémie Rudant, Lara Salvi, Bruno Francou, Anne Guiochon-Mantel, David Adams, Jean-Christophe Antoine, Shahram Attarian, Pascal Cintas, Raul Juntas Morales, Emmeline Lagrange, Laurent Magy, Martial Mallaret, Yann Péréon, Philippe Petiot, Cécile Cauquil, Céline Labeyrie, Andoni Echaniz-Laguna, Guilhem Sole, Céline Tard, Silvia Oghina, Philippe Charron, Michel Slama

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A Case Report of Aicardi-Goutières Syndrome Type 7 Caused by IFIH1 Gene Mutation and a Literature Review by ZHAO Min, SHU Zhou, HAN Tongxin, FU Yanhua, GAO Tianji, MAO Huawei

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Fibrillary glomerulonephritis disease natural history and outcomes: a retrospective two centre cohort study by Yimeng Zhang, Jyoti Baharani, Bamidele Ajayi, Jennifer Pinney

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International experience in drug assessment for rare diseases: flexibility of approaches by K. S. Radaeva, A. S. Kolbin

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Is It Time Alpha-1 Antitrypsin Deficiency Had a Specific Patient Reported Outcome Measure? A Review by De Soyza J, Chien HY, Onasanya AA, Turner AM

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Low rates of patient-reported outcome claims for orphan drugs approved by the us food and drug administration by Szymon Jarosławski, Pascal Auquier, Borislav Borissov, Claude Dussart, Mondher Toumi

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APPLICATION OF MULTIPLE-CRITERIA ANALYSIS FOR OPTIMIZATION OF FINANCING OF RARE DISEASES by V. V. Omelyanovskiy, V. K. Fedyaeva, O. Yu. Rebrova

Subjects: “…rare diseases…”
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European Reference Network (ERN) ReCONNET methodology for the cross-cultural adaptation of instruments for research and care in the context of rare connective tissue diseases (CROS... by Laurent Arnaud, Oliver Sander, Simona Rednic, Philippe Mertz, Raquel Faria, Francesca Crisafulli, Sofia Silva-Ribeiro, Lou Kawka, Cedric Sztejkowski, Christina Düsing, Thomas Rose, Antonio Lamas, Carlos Vasconcelos, Giulia Fontana, Paolo Semeraro, Teodora Neagu, Mihaela Resteu, Laura Damian, Cristina Pamfil, Camelia Bucsa, Lisa J. Matthews, Rosaria Talarico, Marta Mosca, Giuseppe Turchetti, Thomas Thibault, Hervé Devilliers

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