खोज परिणाम - "rare diseases"

A rare disease more common than perceived: Two case studies and brief review of IgA Vasculitis द्वारा Lydia Shedlofsky DO, Chelsea Crist

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Real-world use of orphan medicinal products (OMPs) in rare disease (RD) patients: A population-based registry study द्वारा Monica Mazzucato, Cinzia Minichiello, Andrea Vianello, Laura Visonà dalla Pozza, Ema Toto, Paola Facchin, Paola Facchin

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Clinical profile of comorbidity of rare diseases in a Tunisian patient: a case report associating incontinentia pigmenti and Noonan syndrome द्वारा Nehla Ghedira, Arnaud Lagarde, Karim Ben Ameur, Sahar Elouej, Rania Sakka, Emna Kerkeni, Fatma-Zohra Chioukh, Sylviane Olschwang, Jean-Pierre Desvignes, Sonia Abdelhak, Valerie Delague, Nicolas Lévy, Kamel Monastiri, Annachiara De Sandre-Giovannoli

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Schimke immunoosseous dysplasia: an ultra-rare disease. a 20-year case series from the tertiary hospital in the Czech Republic द्वारा Jakub Zieg, Martin Bezdíčka, Michaela Němčíková, Miroslava Balaščáková, Martina Suková, Katalin Štěrbová, Karel Vondrák, Jiří Dušek, Anna Křepelová

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Achieving Congruence among Reference Laboratories for Absolute Abundance Measurement of Analytes for Rare Diseases: Psychosine for Diagnosis and Prognosis of Krabbe Disease द्वारा Zackary Herbst, Coleman T. Turgeon, Chad Biski, Hamid Khaledi, Nancy B. Shoemaker, Patrick D. DeArmond, Sara Smith, Joseph Orsini, Dietrich Matern, Michael H. Gelb

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Eosinophilic Granulomatosis with Polyangiitis Manifesting as Recurrent Nasal Polyps and Hemorrhagic Necrotic Bullae: A Rare Disease Successfully Treated with Azathioprine द्वारा Abdulaziz Alotaibi, Stefan W. Schneider

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Estimating rare disease prevalence and costs in the USA: a cohort study approach using the Healthcare Cost Institute claims data द्वारा Keith A Crandall, Christine M Cutillo, Ainslie Tisdale, Mahdi Baghbanzadeh, Reva L Stidd, Manpreet S Khural, Laurie J Hartman, Jeff Greenberg, Kevin B Zhang, Ali Rahnavard

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Chronic and rare disease patients' access to healthcare services during a health crisis: The example of the COVID‐19 pandemic in Turkey द्वारा Puren Aktas

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Epstein-Barr Virus-related Multi-site Mucocutaneous Ulcer: A Previously Undescribed Clinical Subset of a Rare Disease द्वारा Emilie Schwob, Vanessa Szablewski, Mathilde Lerisson, Olivier Dereure

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Mast Cell Leukemia: Review of a Rare Disease and Case Report of Prolonged Survival after Allogeneic Stem Cell Transplant द्वारा James Bauer, MD, PhD, Walter Longo, MD, David Yang, MD

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An Exceptional Etiology of a Rare Disease: Pneumatosis Intestinalis in the Intensive Care Unit due to Chronic Graft-Versus-Host Disease द्वारा Taner Çalışkan, Hüseyin Özkök, Murat Küçük, Beril Turan Erdoğan, Vedat Uygun, Yusuf Savran, Bilgin Cömert

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A rare disease with a rare presentation: hemi-atrophy caused by fibromuscular dysplasia in a 27 month old girl द्वारा B. Gharib, A. Ghareh Zadeh Shirazi, E. Moradi, B. Yaghmaei, V. Ziaee

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New problems of a new health system: the creation of a national public policy of rare diseases care in Brazil (1990s-2010s) द्वारा Luiz Alves Araújo Neto, Luiz Antonio Teixeira

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A novel SALL1 C757T mutation in a Chinese family causes a rare disease --Townes-Brocks syndrome द्वारा Yunqian Chi, Yi Yao, Futao Sun, Wenhong Zhang, Zihan Zhang, Yunhe Wang, Wei Hao

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The Internet Knows More Than My Physician: Qualitative Interview Study of People With Rare Diseases and How They Use Online Support Groups द्वारा Sadaf Ashtari, Adam Daniel Taylor

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Association of migration status with quality of life among rural and urban adults with rare diseases: A cross-sectional study from China द्वारा Huanyu Zhang, Shanquan Chen, Dong Dong, Dong Dong

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The effect of adding real-world evidence to regulatory submissions on the breadth of population indicated for rare disease medicine treatment by the European Medicines Agency द्वारा Ravi Jandhyala

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Cutaneous plasmacytosis resembling pityriasis rosea in a 66-year-old white woman: A rare disease presenting in an unusual patient demographic द्वारा Jennifer Bares, BS, Apphia Wang, MD, Peter Pavlidakey, MD, Diego De Idiaquez Bakula, MD, Boni Elewski, MD

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Reactive gene curation to support interpretation and reporting of a clinical genome test for rare disease: Experience from over 1,000 cases द्वारा Amanda R. Clause, Julie P. Taylor, Revathi Rajkumar, Krista Bluske, Maren Bennett, Laura M. Amendola, David R. Bentley, Ryan J. Taft, Denise L. Perry, Alison J. Coffey, Carolyn Brown, Matthew P. Brown, Amanda Buchanan, Brendan Burns, Nicole J. Burns, Anjana Chandrasekhar, Aditi Chawla, Katie Golden-Grant, Akanchha Kesari, Alka Malhotra, Becky Milewski, Samin A. Sajan, Zinayida Schlachetzki, Sarah Schmidt, Brittany Thomas, Erin Thorpe

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Direct-to-Consumer Recruitment Methods via Traditional and Social Media to Aid in Research Accrual for Clinical Trials for Rare Diseases: Comparative Analysis Study द्वारा Janelle Applequist, Cristina Burroughs, Peter A Merkel, Marc Rothenberg, Bruce Trapnell, Robert Desnick, Mustafa Sahin, Jeffrey Krischer

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