Search Results - "rare diseases"

A comprehensive literature scoping review of infection prevention and control methods for viral-mediated gene therapies by Jill E. Blind, Sumit Ghosh, Taylor D. Niese, Julia C. Gardner, Stephanie Stack-Simone, Abigail Dean, Matthew Washam

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Serum Chitotriosidase level as a Novel Biomarker for Therapeutic Monitoring of Nephropathic Cystinosis among the Iraqi children by Zainab A. Al-Kinani, Shatha H. Ali

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Novel mutations of the ABCA12, KRT1 and ST14 genes in three unrelated newborns showing congenital ichthyosis by Gregorio Serra, Luigi Memo, Paola Cavicchioli, Mario Cutrone, Mario Giuffrè, Maria Laura La Torre, Ingrid Anne Mandy Schierz, Giovanni Corsello

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The newborn screening tests in Brazil: regional and socioeconomic prevalence and inequalities in 2013 and 2019 by Letícia R. Dias, Yaná T. Tomasi, Antonio F. Boing

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Mucopolysaccharidosis Type I (Hurler - Scheie Syndrome): Case Report by Nato D. Vashakmadze, Olga I. Gumenuyk, Yuri V. Chernenkov, Ekaterina Yu. Zacharova, Igor A. Glushakov

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Pediatric neurology and telehealth before and during SARS-CoV-2 pandemic by Beata Golebiowska, Maria Golebiowska

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Neurofibroma subungueal solitário: relato de um caso inédito no sexo masculino Solitary subungual neurofibroma: a previously unreported finding in a male patient by Dionne de Almeida Stolarczuk, Ana Luiza Furtado da Silva, Fernanda da Marca Filgueiras, Maria de Fátima Guimarães Scotelaro Alves, Solange Cardoso Maciel Costa Silva

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The Investigational Clinical Center: a clinical-supportive and patient-centered trial unit model. Ten years of experience through normal and pandemic times of a large pediatric tri... by Giuseppe Pontrelli, Marco Ciabattini, Franco De Crescenzo, Isabella Biondi, Rossana Cocchiola, Giorgia Copponi, Claudia Frillici, Francesca Molinari, Francesca Rocchi, Alessandra Simonetti, Paolo Rossi, Susanna Livadiotti

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The amyloid-melanin connection: a cross sectional study on primary cutaneous Macular Amyloidosis by Puneet Bhargava, Shivi Nijhawan, Heena Singdia, Rohit Garg, Neha Chepa, Deepak K Mathur

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Overview of Social Cognitive Dysfunctions in Rare Developmental Syndromes With Psychiatric Phenotype by Aurore Morel, Elodie Peyroux, Arnaud Leleu, Emilie Favre, Nicolas Franck, Caroline Demily

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The strengths and complexities of European registries concerning paediatric kidney transplantation health care by Loes Oomen, Liesbeth L. De Wall, Kai Krupka, Burkhard Tönshoff, Tanja Wlodkowski, Loes FM Van Der Zanden, Marjolein Bonthuis, Marjolein Bonthuis, Ilse D. Duus Weinreich, Linda Koster-Kamphuis, Wout FJ Feitz, Charlotte MHHT Bootsma-Robroeks, Charlotte MHHT Bootsma-Robroeks

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Quality of health care in adolescents and adults with disorders/differences of sex development (DSD) in six European countries (dsd-LIFE) by Ute Thyen, Till Ittermann, Steffen Flessa, Holger Muehlan, Wiebke Birnbaum, Marion Rapp, Louise Marshall, Maria Szarras-Capnik, Claire Bouvattier, Baudewijntje P. C. Kreukels, Anna Nordenstroem, Robert Roehle, Birgit Koehler, on behalf of the dsd-LIFE group

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Real-world disparities and ethical considerations with access to CFTR modulator drugs: Mind the gap! by M. Zampoli, B. M Morrow, G Paul

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Monitoring Educational Intervention Programs for Children and Young People with Disabilities through a Web Application by María Consuelo Sáiz-Manzanares, Raúl Marticorena-Sánchez, M. Camino Escolar-Llamazares, Rut Velasco-Saiz

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Multi-criteria decision analysis for assessment and appraisal of orphan drugs by Georgi Iskrov, Georgi Iskrov, Tsonka Miteva-Katrandzhieva, Tsonka Miteva-Katrandzhieva, Rumen Stefanov, Rumen Stefanov

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Cost-effectiveness of bringing a nurse into an Italian genetic day clinic: a before and after study by Marina Mordenti, Morena Tremosini, Manuela Locatelli, Maria Gnoli, Cristiana Forni, Elena Pedrini, Manila Boarini, Luca Sangiorgi

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Do Advanced Therapies Have a Future in the Low- and Middle-Income Countries - The Case of Bulgaria, Romania, and Poland by Maria Kamusheva, Adina Turcu-Stiolica, Jakub Gierczyński, Mihaela-Simona Subtirelu, Marcin Czech, Guenka Petrova

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Issues of orphan diseases of the nervous system in children during wartime by V.I. Tsymbaliuk, Y.G. Antypkin, L.G. Kyrylova, О.О. Miroshnykov

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Systemic juvenile idiopathic arthritis in French Afro-Caribbean children, a retrospective cohort study by A. Felix, F. Delion, B. Suzon, S. Pallara-Sirven, N. Elenga, P. Quartier, F. Louis-Sidney, M. Dramé, Y. Hatchuel

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Drug supply and assurance: a cross-sectional study of drug shortage monitoring varieties in China by Yipeng Lan, Xiaofeng Lin, Qiannan Chen, Li Wang, Lihua Sun, Zhe Huang

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