Search Results - "rare diseases"

Gaucher's Disease - What Should You Know by Dominika Podgórska, Karolina Jurasz, Miłosz Sanecki, Karolina Tomczyk, Natalia Chojnacka, Ewa Rzeska, Jakub Klarycki, Radosław Cymer

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Induced pluripotent stem cell models of lysosomal storage disorders by Daniel K. Borger, Benjamin McMahon, Tamanna Roshan Lal, Jenny Serra-Vinardell, Elma Aflaki, Ellen Sidransky

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Orphan drugs for the pathogenetic treatment of rаre diseases in the drug registry by S. A. Mishinova

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Genome access and other web-based IT solutions: Genetic counseling in the digital era by Alessia Cazzaniga, Marta Plebani, Marco Crimi

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A Rare Cause of Chronic Hypokalemia with Metabolic Alkalosis: Case Report and Differential Diagnosis by Cristina Bertulli, Marguerite Hureaux, Chiara De Mutiis, Andrea Pasini, Detlef Bockenhauer, Rosa Vargas-Poussou, Claudio La Scola

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MUCOPOLYSACARIDOSIS TYPE IIIB MISDIAGNOSED AS AN AUTISTIC SPECTRUM DISORDER: A CASE REPORT AND LITERATURE REVIEW by Alan Tibério Dalpiaz Irigonhê, Angélica Malman Thomazine Moreira, Daniel Almeida do Valle, Mara Lúcia Schmitz Ferreira Santos

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OSTEOGENESIS IMPERFECTA IN CHILDREN IN THE RUSSIAN FEDERATION: RESULTS OF THE FEDERAL REGISTRY AUDIT by G. T. Yakhyayeva, L. S. Namazova-Baranova, T. V. Margiyeva, O. V. Chumakova

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Kleefstra Syndrome-Dental Manifestations and Needs: A Case Report with a Literature Review by Victoria Karlak, Jakub Jankowski, Julia Kolasińska, Kacper Nijakowski

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Mesonephric Adenocarcinoma of Uterine Cervix; A Case Report and Review of the Literature by Fatemeh Nili, Samaneh Salarvand, Hana Saffar, Bita Kalaghchi, Reza Ghalehtaki

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COVID-19 and Inherited Metabolic Disorders: One-Year Experience of a Referral Center by Albina Tummolo, Giulia Paterno, Annamaria Dicintio, Pasquale Stefanizzi, Livio Melpignano, Maurizio Aricò

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Right neck venous thrombosis following ovarian hyperstimulation syndrome in a patient with protein S deficiency: A case report and review of literature by Kun-Long Huang, Te-Yao Hsu, Ching-Chang Tsai, Yu-Che Ou, Kuo-Chung Lan

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Musculoskeletal health in children and adolescents by Maria Felicia Faienza, Flavia Urbano, Mariangela Chiarito, Giuseppe Lassandro, Paola Giordano

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Development of trofinetide for the treatment of Rett syndrome: from bench to bedside by Melissa Kennedy, Larry Glass, Daniel G. Glaze, Steve Kaminsky, Alan K. Percy, Jeffrey L. Neul, Nancy E. Jones, Daniela Tropea, Joseph P. Horrigan, Paige Nues, Kathie M. Bishop, James M. Youakim

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Using Communication Tools to Explore Young Siblings' Experiences of Having a Brother or Sister with Pediatric Palliative Care Needs by Ulrika Kreicbergs, Stefan Nilsson, Margaretha Jenholt Nolbris, Malin Lövgren

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Highlights of Gene and Cell Therapy for Epidermolysis Bullosa and Ichthyosis by Stefanos A. Koutsoukos, Ganna Bilousova

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Case Report: Expanding the phenotypic spectrum of PURA syndrome in South America with the first presentation of concurrent vitiligo by S. Mora-Martinez, Natalia Castaño-Giraldo, Humberto Alejandro Nati-Castillo, Laura Barahona Machado, Tatiana Mora Arbeláez, G. Gordillo-Gonzalez, Juan S. Izquierdo-Condoy

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Time to focus on outcome assessment tools for childhood vasculitis by Karaoglu Abdulbaki, Ayaz Nuray, Luqmani Raashid, Demirkaya Erkan, Ozen Seza

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Síndrome de hiperferritinemia e catarata hereditária: relato de caso by Hortência Teixeira de Morais, Yan Andrade Reis Haddah, Mariza Aparecida Mota, Adriana Aparecida Ferreira, Marta Halfeld Ferrari Alves Lacordia, Sabrine Teixeira Ferraz Grünewald

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Noninvasive Ventilation in Palliative Care and Ethical Dilemma by Uros Krivec, Serena Caggiano

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Newborn sequencing is only part of the solution for better child health by Luca Brunelli, Heeju Sohn, Amy Brower

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