Search Results - "rare diseases"

The systemic capillary leak syndrome following COVID-19 vaccine by Chengjie Zhao, Ruirui Xue, Kaile Zhao, Ruoyan Lei, Mingyi Zhao, Lin Liu

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Lung Diseases and Rare Disorders: Is It a Lysosomal Storage Disease? Differential Diagnosis, Pathogenetic Mechanisms and Management by Chiara Montanari, Veronica Maria Tagi, Enza D'Auria, Vincenzo Guaia, Anna Di Gallo, Michele Ghezzi, Elvira Verduci, Laura Fiori, Gianvincenzo Zuccotti

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Gestão do cuidado de um paciente com Doença de Devic na Atenção Primária à Saúde by Greici Capellari Fabrizzio, Erádio Gonçalves Júnior, Kamylla Santos da Cunha, Carolina Kahl, José Luís Guedes dos Santos, Alacoque Lorenzini Erdmann

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Advancing clinical development for neuronopathic Hunter syndrome through a quantitatively‐driven reverse translation framework by Robert D. Latzman, Olivia Campagne, Meera E. Modi, Marta Karas, C. J. Malanga, David A. H. Whiteman

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A case of neonatal tsutsugamushi disease diagnosed with the aid of rickettsial macrogenomic detection by Xu Yang, Ling Zhang, Shanping Chen, Wei Chen, Yushan Zhang, Yi Zhang, Jialong Liang, Ying Lv, Weiyan Wang, Yini Zhou, Rui Huang, Dongju Pan, Xueyu Li, Qiurong Li

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The case of eculizumab: litigation and purchases by the Brazilian Ministry of Health by Rosângela Caetano, Paulo Henrique Almeida Rodrigues, Marilena C Villela Corrêa, Pedro Villardi, Claudia Garcia Serpa Osorio-

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Characteristics of oral health of patients with X-linked hypophosphatemia: case reports and literature review by Ana Arhar, Alenka Pavlič, Luka Hočevar

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Genotype-phenotype spectrum and correlation of PHARC Syndrome due to pathogenic ABHD12 variants by Xicui Long, Wenyu Xiong, Xuegang Wang, Jia Geng, Mingjun Zhong, Yu Huang, Man Liu, Fengxiao Bu, Jing Cheng, Yu Lu, Huijun Yuan

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Temporomandibular disorders and psychosocial status in osteogenesis imperfecta - a cross-sectional study by K. H. Bendixen, H. Gjørup, L. Baad-Hansen, J. Dahl Hald, T. Harsløf, M. H. Schmidt, B. L. Langdahl, D. Haubek

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Diseases Neglected by the Media in Espírito Santo, Brazil in 2011-2012. by Aline Guio Cavaca, Tatiana Breder Emerich, Paulo Roberto Vasconcellos-Silva, Edson Theodoro dos Santos-Neto, Adauto Emmerich Oliveira

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Introduction of managed entry agreements in Korea: Problem, policy, and politics by Hyungmin Kim, Hyungmin Kim, Brian Godman, Brian Godman, Brian Godman, Hye-Young Kwon, Song Hee Hong, Song Hee Hong

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Tolosa-Hunt syndrome and recurrent painful ophthalmoplegic neuropathy, case reports: what to do and when? by Daniele Frattini, Alessandro Iodice, Carlotta Spagnoli, Susanna Rizzi, Carlo Alberto Cesaroni, Michela Cappella, Carlo Fusco

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Digital health solution for monitoring and surveillance of Amyotrophic Lateral Sclerosis in Brazil by Ingridy M. P. Barbalho, Aleika L. A. Fonseca, Felipe Fernandes, Jorge Henriques, Paulo Gil, Danilo Nagem, Raquel Lindquist, Thaisa Lima, João Paulo Queiroz dos Santos, Jailton Paiva, Antonio H. F. Morais, Mário E. T. Dourado Júnior, Ricardo A. M. Valentim

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Malignant Hyperthermia and Adverse Metabolic Reactions Under Anesthesia by Shawn Banks, Nicholas B. Nedeff

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Machine Learning Advanced Dynamic Omics Data Analysis for Precision Medicine

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Wilson and Jungner Revisited: Are Screening Criteria Fit for the 21st Century? by Elena Schnabel-Besson, Ulrike Mütze, Nicola Dikow, Friederike Hörster, Marina A. Morath, Karla Alex, Heiko Brennenstuhl, Sascha Settegast, Jürgen G. Okun, Christian P. Schaaf, Eva C. Winkler, Stefan Kölker

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Charting the Ethical Frontier in Newborn Screening Research: Insights from the NBSTRN ELSI Researcher Needs Survey by Yekaterina Unnikumaran, Mei Lietsch, Amy Brower

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Building a precision medicine infrastructure at a national level: The Swedish experience by Anders Edsjö, Anna Lindstrand, David Gisselsson, Paula Mölling, Mikaela Friedman, Lucia Cavelier, Maria Johansson, Hans Ehrencrona, Therese Fagerqvist, Tobias Strid, Lovisa Lovmar, Bo Jacobsson, Åsa Johansson, Lars Engstrand, Craig E. Wheelock, Per Sikora, Valtteri Wirta, Thoas Fioretos, Richard Rosenquist

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Juvenile Dermatomyositis in Afro-Caribbean children: a cohort study in the French West Indies by Arthur Felix, Frederique Delion, Fabienne Louis-Sidney, Lindsay Osei, Aurélie Armougon, Remi Bellance, Moustapha Dramé, Christophe Deligny, Benoit Suzon, Yves Hatchuel

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Expert Delphi survey on research and development into drugs for neglected diseases by Fehr Angela, Thürmann Petra, Razum Oliver

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