Search Results - "rare diseases"

Health-Related Quality of Life and Mental Health of Parents of Children with Pediatric Abdominal Tumors by Kira Zierke, Michael Boettcher, Paulina Behrendt, Safiullah Najem, Holger Zapf, Konrad Reinshagen, Wilhelm Wößmann, Johannes Boettcher

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Open-source approaches for the repurposing of existing or failed candidate drugs: learning from and applying the lessons across diseases by Allarakhia M

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Mitochondrial Dysfunction, Oxidative Stress and Neuroinflammation in Neurodegeneration with Brain Iron Accumulation (NBIA) by Isabel Hinarejos, Candela Machuca, Paula Sancho, Carmen Espinós

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Discrepancies between FDA documents and ClinicalTrials.gov for Orphan Drug-related clinical trial data. by Mohua Chakraborty Choudhury, Indraneel Chakraborty, Gayatri Saberwal

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Use of repurposed drugs in COVID-19 pandemic: Old drugs without new tricks? by Suraj Kapoor

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Oral health and oral-health-related quality of life in people with X-linked hypophosphatemia by Jannik Steur, Lauren Bohner, Jochen Jackowski, Marcel Hanisch, Ole Oelerich

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JAK inhibitors: a potential treatment for JDM in the context of the role of interferon-driven pathology by Meredyth G. Ll Wilkinson, Claire T. Deakin, Charalampia Papadopoulou, Despina Eleftheriou, Lucy R. Wedderburn

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Graphic Novels and Comics in Undergraduate and Graduate Medical Students Education: A Scoping Review by Fabrizio Consorti, Sara Fiorucci, Gianfranco Martucci, Silvia Lai

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A New Approach to Objectively Evaluate Inherited Metabolic Diseases for Inclusion on Newborn Screening Programmes by Alberto Burlina, Simon A. Jones, Anupam Chakrapani, Heather J. Church, Simon Heales, Teresa H. Y. Wu, Georgina Morton, Patricia Roberts, Erica F. Sluys, David Cheillan

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Discrepancies between FDA documents and ClinicalTrials.gov for Orphan Drug-related clinical trial data by Mohua Chakraborty Choudhury, Indraneel Chakraborty, Gayatri Saberwal

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Co-existence of Blau syndrome and NAID? Diagnostic challenges associated with presence of multiple pathogenic variants in NOD2 gene: a case report by Magdalena Dziedzic, Agata Marjańska, Katarzyna Bąbol-Pokora, Anna Urbańczyk, Elżbieta Grześk, Wojciech Młynarski, Sylwia Kołtan

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Case Report: A Case of β-Ureidopropionase Deficiency Complicated With MELAS Syndrome Caused by UPB1 Variant and Mitochondrial Gene Variant by Jianbo Shu, Jianbo Shu, Jianbo Shu, Xiufang Zhi, Xiufang Zhi, Jing Chen, Jing Chen, Meifang Lei, Meifang Lei, Jie Zheng, Jie Zheng, Wenchao Sheng, Wenchao Sheng, Chunhua Zhang, Dong Li, Dong Li, Chunquan Cai, Chunquan Cai, Chunquan Cai, Chunquan Cai

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Clinical Presentation of Schnitzler's Syndrome: A Rare Autoimmune Disease by Vishal Patel MD, Darshana Balasubramaniam MD, Vanessa Cavero-Chavez MD, Lyda Cuervo-Pardo MD, Catalina Sanchez-Alvarez MD

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Pharmaceutical lobbying in Brazil: a missing topic in the public health research agenda by Francisco José Roma Paumgartten

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Case Report: The JAK-Inhibitor Ruxolitinib Use in Aicardi-Goutieres Syndrome Due to ADAR1 Mutation by Marco Cattalini, Marco Cattalini, Jessica Galli, Jessica Galli, Fiammetta Zunica, Rosalba Monica Ferraro, Rosalba Monica Ferraro, Marialuisa Carpanelli, Simona Orcesi, Simona Orcesi, Giovanni Palumbo, Giovanni Palumbo, Lorenzo Pinelli, Silvia Giliani, Silvia Giliani, Elisa Fazzi, Elisa Fazzi, Raffaele Badolato, Raffaele Badolato

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Rare bleeding disorders: a narrative review of epidemiology, molecular and clinical presentations, diagnosis and treatment by Majid Naderi, Shadi Tabibian, Maryam Sadat Hosseini, Shaban Alizadeh, Soudabeh Hosseini, Hossein Karami, Hassan Mahmoodi Nesheli, Akbar Dorgalaleh

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Case report: Aromatic L-amino acid decarboxylase deficiency in three patient cases from the Kingdom of Saudi Arabia by Musaad Abukhaled, Laila Alrakaf, Hesham Aldhalaan, Suad Al Yamani

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Shy-Dragger Syndrome - An underdiagnosed sad reality? by Vasco Pinto Neves, Maria Pacheco, Maria Inês Silva Gonçalve, Joao Rodrigues, Inês Salvado, Jessica Fidalgo, Pedro Daniel Carneiro Ventura

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Induction of Central Nervous System Disease by the Adaptive Immune Response by Fabienne Brilot

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Is Google Trends a reliable tool for digital epidemiology? Insights from different clinical settings by Gianfranco Cervellin, Ivan Comelli, Giuseppe Lippi

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