Search Results - "rare diseases"

Drug Discovery and Development in Rare Diseases: Taking a Closer Look at the Tafamidis Story by Burton A, Castaño A, Bruno M, Riley S, Schumacher J, Sultan MB, See Tai S, Judge DP, Patel JK, Kelly JW

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Merkel cell carcinoma: epidemiology, clinical features, diagnosis and treatment of a rare disease by Stella Meireles Siqueira, Gabriella Campos-, Alexssandra Lima Siqueira dos Santos, Cícero Martins, Andreia Cristina de Melo

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Orphan Drug Use in Patients With Rare Diseases: A Population-Based Cohort Study by Francesca Gorini, Michele Santoro, Anna Pierini, Lorena Mezzasalma, Silvia Baldacci, Elena Bargagli, Alessandra Boncristiano, Maurizia Rossana Brunetto, Paolo Cameli, Francesco Cappelli, Giancarlo Castaman, Barbara Coco, Maria Alice Donati, Renzo Guerrini, Silvia Linari, Vittoria Murro, Iacopo Olivotto, Paola Parronchi, Francesca Pochiero, Oliviero Rossi, Barbara Scappini, Andrea Sodi, Alessandro Maria Vannucchi, Alessio Coi

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Common symptoms for a rare disease in a girl with sarcoidosis: a case report by Mattia Giovannini, Michele Luzzati, Giovanna Ferrara, Anna Maria Buccoliero, Gabriele Simonini, Maurizio de Martino, Rolando Cimaz, Teresa Giani

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Remodeling an existing rare disease registry to be used in regulatory context: Lessons learned and recommendations by Marina Mordenti, Manila Boarini, Fabio D'Alessandro, Elena Pedrini, Manuela Locatelli, Luca Sangiorgi

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The therapeutical approaches for rare diseases through the immune processes of IgG Fc Receptors by Zhan He Wu

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Chapter Modelling Neurodegenerative Diseases Using Human Pluripotent Stem Cells by Hall, Vanessa J.

Subjects: “…biomarker, rare disease, genetic disease, genomics, transcriptomics, proteomics…”
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DOAB: description of the publication

Chapter Modelling Neurodegenerative Diseases Using Human Pluripotent Stem Cells by Hall, Vanessa J.

Subjects: “…biomarker, rare disease, genetic disease, genomics, transcriptomics, proteomics…”
OAPEN Library: download the publication
OAPEN Library: description of the publication

Obstacles and expectations of rare disease patients and their families in Türkiye: ISTisNA project survey results by Ozden Hatirnaz Ng, Ozden Hatirnaz Ng, Ozden Hatirnaz Ng, Ilayda Sahin, Yucel Erbilgin, Ozkan Ozdemir, Ozkan Ozdemir, Emrah Yucesan, Nazli Erturk, Merve Yemenici, Ozlem Akgun Dogan, Ozlem Akgun Dogan, Sibel Aylin Ugur Iseri, Ilhan Satman, Ilhan Satman, Yasemin Alanay, Yasemin Alanay, Yasemin Alanay, Ugur Ozbek, Ugur Ozbek, Ugur Ozbek

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Is sub-national healthcare social protection sufficient for protecting rare disease patients? the case of China by Juan Xu, Juan Xu, Mingren Yu, Zhiguo Zhang, Zhiguo Zhang, Shiwei Gong, Bingqin Li

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A Rare Manifestation of a Rare Disease: Mantle Cell Lymphoma Presenting With Aseptic Meningitis by Elvira Umyarova MD, Sreedhar Adapa MD, Srikanth Naramala MD, Vijay Gayam MD, Narothama Reddy Aeddula MD, Venu Madhav Konala MD

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Quantitative revenue estimates and qualitative assessments of innovative fundraising sources for treating rare diseases in Colombia by Surrey M Walton, Wilson Mayorga, Angela Rodríguez Narváez, Maria Alejandra Chavez, Natalia Cortés Guesguán, Luis Durango, Ludy Alexandra Parada

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A Review of Rare Disease Policies and Orphan Drug Reimbursement Systems in 12 Eurasian Countries by Marcin Czech, Aleksandra Baran-Kooiker, Kagan Atikeler, Kagan Atikeler, Maria Demirtshyan, Kamilla Gaitova, Malwina Holownia-Voloskova, Malwina Holownia-Voloskova, Adina Turcu-Stiolica, Coen Kooiker, Oresta Piniazhko, Natella Konstandyan, Olha Zalis'ka, Jolanta Sykut-Cegielska

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Informing a national rare disease registry strategy in Australia: a mixed methods study by Rasa Ruseckaite, Marisa Caruso, Chethana Mudunna, Falak Helwani, Nicole Millis, Susannah Ahern

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Bell's palsy in a case of Darier's disease - a rare disease association or coincidental finding? by Kritika Pandey, Mankesh Lal Gambhir, Suresh Kumar Malhotra

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Impact of COVID-19 pandemic on rare diseases - A case study on thalassaemia patients in Bangladesh by Mohammad Sorowar Hossain, Farhana Runa, Abdullah Al Mosabbir

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Democratising or disrupting diagnosis? Ethical issues raised by the use of AI tools for rare disease diagnosis by Nina Hallowell, Shirlene Badger, Francis McKay, Angeliki Kerasidou, Christoffer Nellåker

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Patterns of the Health and Economic Burden of 33 Rare Diseases in China: Nationwide Web-Based Study by Jiazhou Yu, Shanquan Chen, Huanyu Zhang, Shuyang Zhang, Dong Dong

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The Role of Reflectance Confocal Microscopy in the Diagnosis and Therapeutic Evaluation of Rare Disease Eosinophilic Pustular Folliculitis by Li Y, Wu M, Hu X, Chen G, Yao X, Zhou X, Lu J

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Silent Sinus Syndrome and Williams Syndrome: Two Rare Diseases Found in a Pediatric Patient by Maddalena Petraroli, Sara Riscassi, Arianna Panigari, Marilena Maltese, Susanna Esposito

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