Search Results - "rare diseases"

The perverse impact of external reference pricing (ERP): a comparison of orphan drugs affordability in 12 European countries. A call for policy change by K. E. Young, I. Soussi, M. Toumi

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Spatial analysis of gender variation in the prevalence of hypertension among the middle-aged and elderly population in Zhejiang Province, China by Li Xu, Dejian Lai, Ya Fang

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Experiences of Being a Parent to a Child with Amelogenesis Imperfecta by Gunilla Pousette Lundgren, Tove Hasselblad, Anna Stigsdotter Johansson, Anna Johansson, Göran Dahllöf

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Health state utilities associated with hyperphagia: Data for use in cost‐utility models by Timothy A. Howell, Louis S. Matza, Usha G. Mallya, Anthony P. Goldstone, W. Scott Butsch, Ethan Lazarus

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Hydrops fetalis: Incidence, Etiologies, Management Strategies, and Outcomes by Younge T, Ottolini KM, Al-Kouatly HB, Berger SI

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Health economic data in reimbursement of new medical technologies: importance of the socio-economic burden as a decision-making criterion by Georgi Iskrov, Svetlan Dermendzhiev, Tsonka Miteva-Katrandzhieva, Rumen Stefanov

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The Persian version of Neurofibromatosis Type 1 Adult Health-Related Quality of Life (NF1-AdQOL) Questionnaire in Iranians: A Validity and reliability study by Reza Jahanshahi, Fatemeh Mirzaei, Mohammad Hossein Askari, Nafiseh Asgari, Shohreh Ghasemi, Akram Sanagoo, Leila Jouybari

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BH4 deficiency identified in a neonatal screening program for hyperphenylalaninemia by Cezar Antonio Abreu de Souza, Michelle Rosa Andrade Alves, Rosangelis del Lama Soares, Viviane de Cássia Kanufre, Valéria de Melo Rodrigues, Rocksane de Carvalho Norton, Ana Lúcia Pimenta Starling, Marcos José Burle de Aguiar

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Combined oral contraceptives: optimal survey complex by О. В. Рыкова

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Prospects for Expansion of Universal Newborn Screening in Bulgaria: A Survey among Medical Professionals by Georgi Iskrov, Vyara Angelova, Boyan Bochev, Vaska Valchinova, Teodora Gencheva, Desislava Dzhuleva, Julian Dichev, Tanya Nedkova, Mariya Palkova, Anelia Tyutyukova, Maria Hristova, Eleonora Hristova-Atanasova, Rumen Stefanov

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Using an experiment among clinical experts to determine the cost and clinical impact of rapid whole exome sequencing in acute pediatric settings by Nattiya Kapol, Wuttichart Kamolvisit, Wuttichart Kamolvisit, Lalida Kongkiattikul, Evan Huang-Ku, Namfon Sribundit, Surasit Lochid-Amnuay, Nathapol Samprasit, Thamonwan Dulsamphan, Parntip Juntama, Chotika Suwanpanich, Ponghathai Boonsimma, Vorasuk Shotelersuk, Vorasuk Shotelersuk, Yot Teerawattananon, Yot Teerawattananon

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Orphan drug: Development trends and strategies by Aarti Sharma, Abraham Jacob, Manas Tandon, Dushyant Kumar

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Case Report: Rare Presentation of Dentin Abnormalities in Loeys-Dietz Syndrome Type I by Priyam Jani, Olivier Duverger, Rashmi Mishra, Rashmi Mishra, Pamela A. Frischmeyer-Guerrerio, Janice S. Lee

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Evaluating case management for caregivers of children with spinal muscular atrophy type I and II-an exploratory, controlled, mixed-methods trial by Jana Willems, Astrid Pechmann, Sabine Wider, Rita Ambs, Sylvia A. N. Meyer, Isabel Cascante, Joachim Sproß, Annette Mund, Erik Farin-Glattacker, Thorsten Langer

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Hypothyroidism in Patients with Down Syndrome: Prevalence and Association with Congenital Heart Defects by Francesca Gorini, Alessio Coi, Anna Pierini, Nadia Assanta, Antonio Bottoni, Michele Santoro

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Case Report: Early presentation of hereditary angioedema symptoms in a 2-year-old boy by Jurate Staikuniene-Kozonis, Jurate Staikuniene-Kozonis, Juste Staikunaite, Juste Staikunaite, Edita Gasiuniene, Justina Sematonyte

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Non-convulsive Status Epilepticus in SEMA6B-Related Progressive Myoclonic Epilepsy: A Case Report With Literature Review by Jing Duan, Yan Chen, Zhanqi Hu, Yuanzhen Ye, Tian Zhang, Cong Li, Qi Zeng, Xia Zhao, Jiahui Mai, Yang Sun, Chao Liu, Wenxin Zheng, Yuhan Xiao, Jianxiang Liao, Li Chen

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A case report of interstitial ectopic pregnancy (Corneal) with placenta Increta in the second half of pregnancy by Zahra Yazdi, Hoora Amouzegar, Zohre Khalajinia

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Systemic treatment of recessive dystrophic epidermolysis bullosa with mesenchymal stromal cells: a scoping review of the literature and conclusions for future clinical research by Elke Niebergall-Roth, Kathrin Dieter, Markus H. Frank, Mark A. Kluth

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Idiopathic Pulmonary Hypertension and in Situ Thromboembolism: A Difficult Case in Clinical Practice by M. A. Us, Ju. Ju. Karpenko

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