Search Results - "rare diseases"

Patient-Patient Similarity-Based Screening of a Clinical Data Warehouse to Support Ciliopathy Diagnosis by Xiaoyi Chen, Xiaoyi Chen, Xiaoyi Chen, Carole Faviez, Carole Faviez, Marc Vincent, Luis Briseño-Roa, Hassan Faour, Jean-Philippe Annereau, Stanislas Lyonnet, Mohamad Zaidan, Sophie Saunier, Nicolas Garcelon, Nicolas Garcelon, Nicolas Garcelon, Anita Burgun, Anita Burgun, Anita Burgun

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An innovative method for manufacturing the Tuebingen palatal plate for infants with Robin sequence by Silvia Müller-Hagedorn, Jörg Arand, Thilo Scholz, Christian F. Poets, Cornelia Wiechers

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Diagnosis and treatment of interstitial lung disease related to systemic autoimmune myopathies: a narrative review by F.H.C. De Souza, D.B. De Araújo, L.S. Hoff, B.G. Baldi, M.S.M.S. Faria, L.F da Rocha Junior, L.R.S Da Silva, G.L Behrens Pinto, M.C. Bezerra, R. Miossi, R.A. Cordeiro, S.K Shinjo

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Burden of Friedreich's Ataxia to the Patients and Healthcare Systems in the United States and Canada by Barbara ePolek, William T Andrews, MT eRoach, Manfred eEhling, Sam eSalek

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Immune dysregulation in Kabuki syndrome: a case report of Evans syndrome and hypogammaglobulinemia by Lucia Leonardi, Alessia Testa, Mariavittoria Feleppa, Roberto Paparella, Francesca Conti, Antonio Marzollo, Alberto Spalice, Fiorina Giona, Maria Gnazzo, Gian Marco Andreoli, Francesco Costantino, Luigi Tarani

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Availability and Accessibility of Orphan Medicinal Products to Patients in Slovakia in the Years 2010-2019 by Tatiana Foltanova, Tatiana Foltanova, Alan Majernik, Eva Malikova, Eva Malikova, Stanislava Kosirova

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Two compound heterozygous variants in the CLN8 gene are responsible for neuronal cereidolipofuscinoses disorder in a child: a case report by Federico Baltar, Federico Baltar, Camila Simoes, Camila Simoes, Francisco Garagorry, Martín Graña, Soledad Rodríguez, María Haydée Aunchayna, Alejandra Tapié, Alfredo Cerisola, Gabriel González, Hugo Naya, Hugo Naya, Lucía Spangenberg, Lucía Spangenberg, Víctor Raggio

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Referent data for investigations of upper limb accelerometry: harmonized data from three cohorts of typically-developing children by Catherine E. Lang, Catherine E. Lang, Catherine E. Lang, Catherine R. Hoyt, Jeffrey D. Konrad, Kayla R. Bell, Natasha Marrus, Marghuretta D. Bland, Marghuretta D. Bland, Marghuretta D. Bland, Keith R. Lohse, Keith R. Lohse, Allison E. Miller

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A Review of Disparities and Unmet Newborn Screening Needs over 33 Years in a Cohort of Mexican Patients with Inborn Errors of Intermediary Metabolism by Isabel Ibarra-González, Cynthia Fernández-Lainez, Marcela Vela-Amieva, Sara Guillén-López, Leticia Belmont-Martínez, Lizbeth López-Mejía, Rosa Itzel Carrillo-Nieto, Nidia Alejandra Guillén-Zaragoza

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Tocilizumab for treating mevalonate kinase deficiency and TNF receptor-associated periodic syndrome: a case series and literature review by Yandie Li, Meiping Lu

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Aneurysms in childhood: literature review and cases description by Daniel Gregório Gonsalves, Manuela Guedes Pereira, Pedro Henrique Simm Pires de Aguiar, Fernanda Lopes Rocha Cobucci, Marcelo Ughini Crusius, Roberto Alexandre Dezena, Paulo Henrique Pires de Aguiar

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Oral health-related quality of life of young people with mucopolysaccharidosis: a paired cross-sectional study by Tahyná Duda DEPS, Natalia Cristina Ruy CARNEIRO, Belinda NICOLAU, Isabela Almeida PORDEUS, Ana Cristina BORGES-OLIVEIRA

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Mediastinal high-grade vasculogenic mesenchymal tumour with seminoma: a case report and literature review by Shang Zhanxian, Han Yuchen, Wei Jinzhi, Zhu Lei

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Unmet Needs of Parents of Children with Urea Cycle Disorders by Mara Scharping, Heiko Brennenstuhl, Sven F. Garbade, Beate Wild, Roland Posset, Matthias Zielonka, Stefan Kölker, Markus W. Haun, Thomas Opladen

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Model‐informed pediatric dose selection of marzeptacog alfa (activated): An exposure matching strategy by Alan Faraj, Rob C. vanWijk, Linda Neuman, Shraddha Desai, Grant E. Blouse, Tom Knudsen, Ulrika S. H. Simonsson

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Selected Lectures of the Balkan Meeting of Neonatology; Cagliari (Italy); October 25, 2024 by -

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Another Rush to Judgement: The Imaginary Worlds of ICER and Recommendations in Duchenne Muscular Dystrophy by Paul Langley

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The impact of an online support group on patients' awareness of pregnancy-and lactation-induced osteoporosis by Sansin Tuzun, Eren Aygun

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Retroperitoneal fibrosis is still underdiagnosed entity with poor prognosis by Izabela Łoń, Monika Wieliczko, Jacek Lewandowski, Jolanta Małyszko

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Guideline Adherence and Registry Recruitment of Congenital Primary Hypothyroidism: Data from the German Registry for Congenital Hypothyroidism (HypoDok) by Julia Thomann, Sascha R. Tittel, Egbert Voss, Rudolf Oeverink, Katja Palm, Susanne Fricke-Otto, Klaus Kapelari, Reinhard W. Holl, Joachim Woelfle, Markus Bettendorf

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