National Registry of Rare Diseases by Yadnil Elizabeth Gómez Vázquez, Onelis Góngora Gómez

“…A rare disease is one that affects a small absolute number of people or a small population. …”
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Genomic diversity: meeting the challenge of rare diseases by Neveen A. Soliman, John A. Sayer

“…Journal of Rare Diseases…”
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Ultra-rare Disease and Genomics-Driven Precision Medicine by Sangmoon Lee, Murim Choi

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Drug repurposing screen for the rare disease ataxia-telangiectasia by Namrata Jayanth, Gurvan Mahé, Matthew Campbell, Mike Lipkin, Shushant Jain, Rhea van de Bospoort, Jennifer Thornton, Brad Margus, David F. Fischer

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The advantages of rare disease biobanking: A localised source of genetic knowledge to benefit the South African rare disease community and related stakeholders worldwide by M Dercksen, E H Conradie, C J Hendriksz, H Malherbe, B C Vorster

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Merkel Cell Carcinoma: Interdisciplinary Management of a Rare Disease by Sven Schneider, Dietmar Thurnher, Boban M. Erovic

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Epigene functional diversity: isoform usage, disordered domain content, and variable binding partners by Leroy Bondhus, Aileen A. Nava, Isabelle S. Liu, Valerie A. Arboleda

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A proof-of-concept study of extracting patient histories for rare/intractable diseases from social media by Atsuko Yamaguchi, Núria Queralt-Rosinach

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A Rare Presentation of a Rare Disease: Pulmonary Lymphomatoid Granulomatosis by Ghulam Rehman Mohyuddin, Fatima Sultan, Ghulam Khaleeq

“…An isolated hilar mass is an exceptionally rare presentation of this rare disease.…”
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Measuring the Impact of the COVID-19 Pandemic on Diagnostic Delay in Rare Disease by Caitlin Hampson, William Evans, Lucy McKay, Lara Menzies

“… Rare diseases are individually rare but collectively common, with a combined prevalence of 3.5–5.9%. …”
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A Concise Review of Ketogenic Dietary Interventions in the Management of Rare Diseases by D. Hettiarachchi, K. Lakmal, V. H. W. Dissanayake

“…With this review, we look at different uses of the ketogenic diet in treating rare diseases and the recommendations based on current evidence.…”
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The impact of COVID-19 on patients affected by rare diseases and congenital disorders in South Africa: A scoping review by M C M Gomes, H L Malherbe

Subjects: “…rare diseases…”
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Parathyroid carcinoma and pheochromocytoma in a patient with neurofibromatosis type 1: a rare association by Jardelina Brena Rocha Leite, Nicole Ramalho De Freitas, Rafaella Nelice de Holanda Cardoso, Erik Trovão Diniz, Gabriel Rodrigues de Assis Ferreira, Fernão Henrique Costa e Alvim, Camila Ribeiro Coutinho Madruga, Ana Carolina Thé Garrido, Luciano Albuquerque, Patricia Sampaio Gadelha, Ruy Lyra, Lucio Vilar

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Stress and anxiety among caregivers of adult patients with Niemann-Pick Type C disease by Izabela Dawidowska-Nowak, Joanna Biegańska-Banaś, Beata Kieć-Wilk

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Criteria to define rare diseases and orphan drugs: a systematic review protocol by Katie Kerr, Ghada Mohammed Abozaid, Amy McKnight, Hussain A Al-Omar

“…Introduction Rare diseases (RDs) are often chronic and progressive life-threatening medical conditions that affect a low percentage of the population compared with other diseases. …”
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Angiomyolipoma in a Patient with Situs Inversus Totalis: Managing Two Rare Diseases by Jonathan Mayes, Nigel Heaton

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Quantifying hope: an EU perspective of rare disease therapeutic space and market dynamics by Emmanuelle Cacoub, Emmanuelle Cacoub, Nathalie Barreto Lefebvre, Dimitrije Milunov, Manish Sarkar, Soham Saha

Subjects: “…rare diseases…”
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Human-based complex in vitro models: their promise and potential for rare disease therapeutics by Surat Parvatam, Francesca Pistollato, Lindsay J. Marshall, Fabia Furtmann, Devashree Jahagirdar, Mohua Chakraborty Choudhury, Sujata Mohanty, Harshita Mittal, Saveetha Meganathan, Rakesh Mishra

Subjects: “…rare diseases…”
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Hemorrhagic Stroke in Relapsing Polychondritis: A Rare Complication of a Rare Disease by Benjamin Chaucer, Augustus Demanes, Abriella Stone, Venkat Kakollu

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Primary Pneumatosis Intestinalis of Small Bowel: A Case of a Rare Disease by Daniela Berritto, Raffaello Crincoli, Francesca Iacobellis, Francesca Iasiello, Nunzia Luisa Pizza, Francesco Lassandro, Lanfranco Musto, Roberto Grassi

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