Search Results - "rare diseases"

Measurement of Health-Related Quality of Life in Individuals With Rare Diseases in China: Nation-Wide Online Survey by Richard Huan Xu, Shamay S M Ng, Nan Luo, Dong Dong, Shuyang Zhang

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The Role of Otoscopy in the Diagnosis of Rare Diseases in Pediatrics. Congenital Middle Ear Cholesteatoma in the Child: Clinical Case by Irina V. Zelenkova, Svetlana G. Gubanova, Irina V. Naumova, Viktor A. Gankovskii, Madina T. Fatakhova, Leyla S. Namazova-Baranova

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"Is this case of a very rare disease work-related?" A review of reported cases of Pacinian neuroma by Francesca Zanardi, Robin MT Cooke, Antonino Maiorana, Stefania Curti, Andrea Farioli, Roberta Bonfiglioli, Francesco S Violante, Stefano Mattioli

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Pharmacy Compounded Medicines for Patients With Rare Diseases: Lessons Learned From Chenodeoxycholic Acid and Cholic Acid by Yasmin Polak, Yasmin Polak, Bart A. W. Jacobs, Bart A. W. Jacobs, E. Marleen Kemper, E. Marleen Kemper

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A case of Carney complex misdiagnosed as neurofibromatosis type 1 - Diagnostic difficulty in a rare disease by Yoshitane Tsukamoto, MD, PhD, Masafumi Kurajyoh, MD, PhD, Hidenori Koyama, MD, PhD, Masao Kakibuchi, MD, PhD, Shingo Yamamoto, MD, PhD, Yuji Miyamoto, MD, PhD, Hiroyuki Hao, MD, PhD, Seiichi Hirota, MD, PhD

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Mobile Apps for People With Rare Diseases: Review and Quality Assessment Using Mobile App Rating Scale by Sarah Hatem, Janet C Long, Stephanie Best, Zoe Fehlberg, Bróna Nic Giolla Easpaig, Jeffrey Braithwaite

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A patient-centered care for the management of children with rare diseases: collaboration between physicians, nurses, and patients by O.R. Boyarchuk, I.M. Antoniuk

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Primary bilateral adrenal lymphoma masquerading as a metastatic melanoma: An unusual presentation of a rare disease by J. Stephen Stalls, Anas Mohamed, Masood Hassan, Kim Geisinger, Anuradha Kanungo, Moiz Vora, Anokhi Patel, Andrew Weil

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Pharmacotherapeutic Patterns and Patients' Access to Pharmacotherapy for Some Rare Diseases in Bulgaria - A Pilot Comparative Study by Maria Kamusheva, Maria Dimitrova, Konstantin Tachkov, Guenka Petrova, Zornitsa Mitkova

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Perspectives of Rare Disease Social Media Group Participants on Engaging With Genetic Counselors: Mixed Methods Study by Megan Yabumoto, Emily Miller, Anoushka Rao, Holly K Tabor, Kelly E Ormond, Meghan C Halley

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Engaging the Canadian public on reimbursement decision-making for drugs for rare diseases: a national online survey by Julie Polisena, Michael Burgess, Craig Mitton, Larry D. Lynd

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Neonatal inflammatory skin and bowel disease type 2: a very rare disease associated with EGFR mutation by Mariana Lemos, Joana S. Gonçalves, Cátia R. Correia, Ana Teresa Maria

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Post-surgical pyoderma gangrenosum following electrosurgery and elliptical excision: A rare disease following common procedures by Mario Gaston Toledo Lelevier, Raul Gerardo Mendez Flores, Luzma Kareena Jimenez Leon, Teresa Aranzazu Gomez Cevallos, Marisol Ramirez Padilla

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Accelerating rare disease detection: an experience of multidisciplinary team model in undiagnosed diseases program in a children's hospital by Yu Shi, Shijian Miao, Yuan Yuan, Yang Fu, Chengjun Sun, Hongsheng Wang, MengMeng Ge, Dongyun Li, Guomei Shen, Xuan Gao, Xiaowen Zhai

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Mental health care for rare disease in the UK - recommendations from a quantitative survey and multi-stakeholder workshop by Rosa Spencer-Tansley, Nick Meade, Farhana Ali, Amy Simpson, Amy Hunter

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Metastatic extramammary paget disease, a remarkable clinical case and a brief review of a rare disease by Leonor Fernandes, Joana Graça, Leonor Vasconcelos de Matos, Rita Sampaio, Mafalda Miranda Baleiras, Filipa Ferreira, Marta Mesquita Pinto, Helena Miranda, Ana Martins

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Patient-led development of digital endpoints and the use of computer vision analysis in assessment of motor function in rare diseases by Elisa Ferrer-Mallol, Clare Matthews, Madeline Stoodley, Alessandra Gaeta, Elinor George, Emily Reuben, Alex Johnson, Elin Haf Davies

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Flexibility in assessment of rare disease technologies via NICE's single technology appraisal route: a thematic analysis by George Hale, James Morris, Jules Barker-Yip

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Facebook Support Groups for Pediatric Rare Diseases: Cross-Sectional Study to Investigate Opportunities, Limitations, and Privacy Concerns by Sarah Catrin Titgemeyer, Christian P Schaaf

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Unlocking the full potential of rare disease drug development: exploring the not-for-profit sector's contributions to drug development and access by Stefano Vavassori, Sean Russell, Celeste Scotti, Stefano Benvenuti

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