Search Results - "rare diseases"

Pregnancy related cancer in Apulia. A population based linkage study by Ferdinando Murgia, Marco Marinaccio, Gennaro Cormio, Vera Loizzi, Rossana Cicinelli, Stefano Bettocchi, Ettore Cicinelli

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Identification of Challenging Diagnostic Factors in Livedoid Vasculopathy: A Retrospective Study by Qi F, Gao Y, Jin H

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When synchronous mucinous metaplasia and neoplasia of the female genital tract and peutz-jeghers syndrome meet: a case report and literature reviews by Yue Zhou, Xinyi Wang, Yang Li, Weiru Zhang, Xiaoxuan Xu, Yingxin Pang, Peishu Liu

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Management of Acute and Chronic Complications of Lysosomal Storage Diseases in Children and Adults: Current Practice and Future Opportunities

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Uncovering the hidden socioeconomic impact of juvenile idiopathic arthritis and paving the way for other rare childhood diseases: an international, cross-disciplinary, patient-cent... by Deborah A. Marshall, Brittany Gerber, Gillian R. Currie, Jordi Antón, Lien De Somer, Michelle Dey, Tsipi Egert, Yona Egert, Lia Henan, Jens Klotsche, Laura Martinez Mifsut, Kirsten Minden, Christophe Normand, David Porte, Rotraud K. Saurenmann, Joost F. Swart, Yosef Uziel, Jennifer Wilson, Carine Wouters, Amit Ziv, Susanne M. Benseler, on behalf of the PAVE Consortium

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Clinical aspects of reimbursement policies for orphan drugs in Central and Eastern European countries by Szczepan Jakubowski, Pawel Kawalec, Przemyslaw Holko, Iwona Kowalska-Bobko, Maria Kamusheva, Guenka Petrova, Pero Draganić, Pero Draganić, Leos Fuksa, Agnes Männik, Fanni Ispán, Vitalis Briedis, Ioana Bianchi, Marian Sorin Paveliu, Tomas Tesar

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S100A12 Serum Levels and PMN Counts Are Elevated in Childhood Systemic Vasculitides Especially Involving Proteinase 3 Specific Anti-neutrophil Cytoplasmic Antibodies by Kelly L. Brown, Kelly L. Brown, Joanna M. Lubieniecka, Giulia Armaroli, Katharina Kessel, Kristen M. Gibson, Kristen M. Gibson, Jinko Graham, Dongmeng Liu, Robert E. W. Hancock, Robert E. W. Hancock, Colin J. Ross, Colin J. Ross, Susanne M. Benseler, Raashid A. Luqmani, David A. Cabral, David A. Cabral, Dirk Foell, Christoph Kessel

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Longitudinal serum biomarker screening identifies malate dehydrogenase 2 as candidate prognostic biomarker for Duchenne muscular dystrophy by Mirko Signorelli, Burcu Ayoglu, Camilla Johansson, Hanns Lochmüller, Volker Straub, Francesco Muntoni, Erik Niks, Roula Tsonaka, Anja Persson, Annemieke Aartsma‐Rus, Peter Nilsson, Cristina Al‐Khalili Szigyarto, Pietro Spitali

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Application of Non-drug Methods in the Complex Rehabilitation of Children with Congenital Epidermolysis Bullosa by Olga M. Konova, Tatiana V. Sviridova, Svetlana B. Lazurenko, Irina P. Brazhnikova, Svetlana V. Isaenkova, Nikolay N. Murashkin

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Long-term distress throughout one's life: health-related quality of life, economic and caregiver burden of patients with neurofibromatosis type 1 in China by Wanxian Liang, Wanxian Liang, Shihuan Cao, Shihuan Cao, Yusi Suo, Yusi Suo, Lining Zhang, Lining Zhang, Lujia Yang, Lujia Yang, Ping Wang, Ping Wang, Hanfei Wang, Hanfei Wang, Han Wang, Han Wang, Guannan Bai, Qingnan Li, Qingnan Li, Jiayin Zheng, Jiayin Zheng, Xuejing Jin, Xuejing Jin

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Methods for Indirect Treatment Comparison: Results from a Systematic Literature Review by Bérengère Macabeo, Arthur Quenéchdu, Samuel Aballéa, Clément François, Laurent Boyer, Philippe Laramée

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Case Report: Off-Label Liraglutide Use in Children With Wolfram Syndrome Type 1: Extensive Characterization of Four Patients by Giulio Frontino, Giulio Frontino, Tara Raouf, Tara Raouf, Daniele Canarutto, Daniele Canarutto, Daniele Canarutto, Eva Tirelli, Eva Tirelli, Raffaella Di Tonno, Raffaella Di Tonno, Andrea Rigamonti, Andrea Rigamonti, Maria Lucia Cascavilla, Cristina Baldoli, Roberta Scotti, Letizia Leocani, Letizia Leocani, Su-Chun Huang, Franco Meschi, Franco Meschi, Graziano Barera, Vania Broccoli, Greta Rossi, Silvia Torchio, Raniero Chimienti, Riccardo Bonfanti, Riccardo Bonfanti, Lorenzo Piemonti, Lorenzo Piemonti

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Effects of metformin extended release compared to immediate release formula on glycemic control and glycemic variability in patients with type 2 diabetes by Derosa G, D'Angelo A, Romano D, Maffioli P

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A novel homozygous SLC39A14 variant in an infant with hypermanganesemia and a review of the literature by Meijiao Zhang, Liping Zhu, Huiping Wang, Ying Hao, Qingping Zhang, Chunyan Zhao, Xinhua Bao

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Association between asbestos exposure and pericardial and tunica vaginalis testis malignant mesothelioma: a case-control study and epidemiological remarks by Alessandro Marinaccio, Dario Consonni, Carolina Mensi, Dario Mirabelli, Enrica Migliore, Corrado Magnani, Davide Di Marzio, Valerio Gennaro, Guido Mazzoleni, Paolo Girardi, Corrado Negro, Antonio Romanelli, Elisabetta Chellini, Iolanda Grappasonni, Gabriella Madeo, Elisa Romeo, Valeria Ascoli, Francesco Carrozza, Italo Francesco Angelillo, Domenica Cavone, Rosario Tumino, Massimo Melis, Stefania Curti, Giovanni Brandi, Stefano Mattioli, Sergio Iavicoli, ReNaM Working Group

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Psychometric evaluation of a patient-reported outcomes instrument for congenital thrombotic thrombocytopenic purpura by Abiola Oladapo, Diane Ito, Ana María Rodriguez, Stephanie Philpott, Robert Krupnick, Veleka Allen, Christopher Hibbard, Marie Scully, Bruce Ewenstein

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CLINICAL MANIFESTATIONS OF SARCOIDOSIS ON THE PROLABIUM AND ORAL MUCOSA: MANAGEMENT by P.M. Skrypnikov, T.P. Skrypnikova, Yu.M. Vitko

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Developments in the Management of Growth Hormone Deficiency: Clinical Utility of Somapacitan by Miller BS, Blair J, Horikawa R, Linglart A, Yuen KC

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Effectiveness of Digital Forced-Choice Nudges for Voluntary Data Donation by Health Self-trackers in Germany: Web-Based Experiment by Katharina Pilgrim, Sabine Bohnet-Joschko

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A randomized, double-blind clinical trial of canrenone vs hydrochlorothiazide in addition to angiotensin II receptor blockers in hypertensive type 2 diabetic patients by Derosa G, Gaudio G, Pasini G, D'Angelo A, Maffioli P

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