A Review of the Data-Driven Policy Making of Medical Financial Assistance for Rare Diseases: Current Situation, Trends and Opportunities by DUAN Yuehan, FAN Zhiyu, LI Qianhui, PENG Zhaiwen

Subjects: “…rare diseases…”
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PFAPA (Periodic fever, aphtous stomatitis, pharingitis, cervical adenitis) or Marshall’s syndrome in children by N N Kuzmina, G R Movsisyan

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First year results and insights from the Mexican Rare Disease Patient Registry by César E. Calvo Aspiros, Claudia Gonzaga-Jauregui

Subjects: “…Rare diseases…”
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Smart medical report: efficient detection of common and rare diseases on common blood tests by Ákos Németh, Ákos Németh, Gábor Tóth, Péter Fülöp, György Paragh, Bíborka Nádró, Zsolt Karányi, György Paragh, Zsolt Horváth, Zsolt Csernák, Zsolt Csernák, Erzsébet Pintér, Erzsébet Pintér, Dániel Sándor, Dániel Sándor, Gábor Bagyó, István Édes, János Kappelmayer, Mariann Harangi, Bálint Daróczy, Bálint Daróczy

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Rare diseases: ethical challenges in the era of digital health by Liesbeth Siderius, Liesbeth Siderius, Sahan Damsiri Perera, Lina Jankauskaite, Lina Jankauskaite, Anjan Bhattacharya, Anjan Bhattacharya, Paulo Gonçalves

Subjects: “…rare diseases…”
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The cross-sector model of care: A work design perspective by Annika Mertens, Madison Kho, Sharon K. Parker, Gareth Baynam, Sue Baker, Kaila Stevens

Subjects: “…Rare diseases…”
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Targeting shared molecular etiologies to accelerate drug development for rare diseases by Galliano Zanello, Macarena Garrido‐Estepa, Ana Crespo, Daniel O'Connor, Rima Nabbout, Christina Waters, Anthony Hall, Maurizio Taglialatela, Chun‐Hung Chan, David A Pearce, Marc Dooms, Philip John Brooks

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Unlocking access: a comprehensive analysis of medicines accessibility for rare diseases in Thailand by Siriwat Suwattanapreeda, Sanita Hirunrassamee, Chaoncin Sooksriwong, Kusawadee Maluangnon, Thirapich Chuachantra, Krissana Kuchaisit, Niti Osirisakul

Subjects: “…Rare diseases…”
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Caring for patients with rare diseases during the COVID-19 pandemic by Mohamed Boudjelal, Nimer Mehyar, Bandar Alghanem, Faisal Almajed, Majid Alfadhel

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Developing a congenital hyperinsulinism prioritized research agenda: a patient-driven international collaborative research network by Tai L. S. Pasquini, Indraneel Banerjee, Henrik Thybo Christesen, Louise S. Conwell, Antonia Dastamani, Diva D. De Leon, Sarah E. Flanagan, David Gillis, Jennifer M. Kalish, Katherine Lord, Mahlet Mesfin, Jennifer Schmitt, Senthil Senniappan, Charles A. Stanley, Paul S. Thornton, David Zangen, Julie Raskin, the Congenital Hyperinsulinism Collaborative Research Network Members

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mTOR pathway diseases: challenges and opportunities from bench to bedside and the mTOR node by Laura Mantoan Ritter, Nicholas M. P. Annear, Emma L. Baple, Leila Y. Ben-Chaabane, Istvan Bodi, Lauren Brosson, Jill E. Cadwgan, Bryn Coslett, Andrew H. Crosby, D. Mark Davies, Nicola Daykin, Stefanie Dedeurwaerdere, Christina Dühring Fenger, Elaine A. Dunlop, Frances V. Elmslie, Marie Girodengo, Sophie Hambleton, Anna C. Jansen, Simon R. Johnson, Kelly C. Kearley, John C. Kingswood, Liisi Laaniste, Katherine Lachlan, Andrew Latchford, Ralitsa R. Madsen, Sahar Mansour, Simeon R. Mihaylov, Louwai Muhammed, Claire Oliver, Tom Pepper, Lettie E. Rawlins, Ina Schim van der Loeff, Ata Siddiqui, Pooja Takhar, Katrina Tatton-Brown, Andrew R. Tee, Priyanka Tibarewal, Charlotte Tye, Sila K. Ultanir, Bart Vanhaesebroeck, Benjamin Zare, Deb K. Pal, Joseph M. Bateman

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Fostering continuous quality improvement in a European rare disease network by Olivia K. C. Spivack, Willemijn F. E. Irvine, Willemijn F. E. Irvine, Steffen Husby, ERNICA Representatives, Tomas Wester, Tomas Wester, René M. H. Wijnen, Mikko Pakarinen, Annette Lemli, Stefaan Tytgat, Frederic Gottrand, JoAnne Fruithof, Annika Mutanen, Merit Tabbers, Mark Bremholm Ellebæk, Jan Deprest, Laurent Storme, Paolo de Coppi, Beverley Power, Alexandra Benachi, Carmen Mesas Burgos, Polona Studen Pauletić, Erwin Ista, Michaela Dellenmark-Blom, Alessio Pini Prato, Anke Widenmann, Romee van Steekelenburg, Marlinde van der Kamp, Daniel Rossi, Iris den Uijl, Roel Bakx, Francesca Russo

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A literature review of the healthcare resource use and productivity burden of X-linked hypophosphataemia by Rafael Pinedo-Villanueva, Muhammad K. Javaid, Angela Williams, Isabelle Whittle, Matilde Franceschini, Ben Johnson

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Digital-Intellectualized Upgrade and Clinical Application of National Rare Diseases Registry System of China by GUO Jian, JIN Ye, LIU Peng, ZHANG Dingding, CHEN Limeng, ZHU Yicheng, ZHANG Shuyang, on behalf of the administrative group of National Rare Diseases Registry System of China

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Screening, diagnostic, and monitoring approaches of Bardet-Biedl Syndrome: A scoping review by Letícia Nunes Campos, Ivo Valentin Rudzinski, Gabriela Oriana Pintos, Santino Curto, Santiago Miguel Maximowicz, Ayla Gerk, Israel Dávila Rivera, Federico Fernandez Zelcer, Carlos Stegmann, Carina Francisca Argüelles, Jorgelina Stegmann

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Clinical features, disease burden and impact on quality of life in participants with mitochondrial encephalomyopathy by John Sieh Dumbuya, Chuan Tian, Lin Deng, Bashir Ahmad, Xiuling Chen, Jun Lu

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Preclinical pharmacology and safety studies to support an AAV9 NGLY1 gene therapy clinical trial for the treatment of NGLY1 deficiency by Lei Zhu, Jennifer W. Cook, Alicia Newton, Selina S. Dwight, Brendan Beahm, Matt Wilsey, William F. Mueller, Becky Schweighardt

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A real-world study on the clinicopathological profile, treatment outcomes and health-related quality of life, anxiety and depression among patients with desmoid tumor at two tertia... by Ghazal Tansir, Aparna Sharma, Bivas Biswas, Suryadev Narayan Sah, Somnath Roy, S. V. S. Deo, Sandeep Agarwala, Shah Alam Khan, Sameer Bakhshi, Deepam Pushpam

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From Catalyst to Clarity by Ezra Chan

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Ovarian tissue cryopreservation for a girl with combined severe hemolytic anemia due to pyruvate kinase deficiency: a case report and literature review by Lingling Jiang, Xiangyan Ruan, Juan Du, Jiaojiao Cheng, Yanglu Li, Muqing Gu, Yanqiu Li, Fengyu Jin, Jinshan Zhang, Jianji Xu, Alfred O. Mueck

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