Search Results - "rare diseases"

Impact of Remdesivir on SARS-CoV-2 Clearance in a Real-Life Setting: A Matched-Cohort Study by Spagnuolo V, Voarino M, Tonelli M, Galli L, Poli A, Bruzzesi E, Racca S, Clementi N, Oltolini C, Tresoldi M, Rovere Querini P, Dagna L, Zangrillo A, Ciceri F, Clementi M, Castagna A

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Thrombotic microangiopathies in critically ill children: The MATUCIP registry in Spain by Lorena Bermúdez Barrezueta, Sylvia Belda Hofheinz, Amelia Martínez De Azagra Garde, Sara Bobillo Pérez, Manuel Nieto Faza, Antonio Rodríguez Núñez

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Cardio- Renal Outcomes With Long- Term Agalsidase Alfa Enzyme Replacement Therapy: A 10- Year Fabry Outcome Survey (FOS) Analysis by Ramaswami U, Beck M, Hughes D, Kampmann C, Botha J, Pintos-Morell G, West ML, Niu DM, Nicholls K, Giugliani R

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Selected Lectures of the 18th International Workshop on Neonatology and Pediatrics; Cagliari (Italy); October 19-22, 2022 by -

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Although a valuable method in occupational epidemiology, job-exposure ­matrices are no magic fix by Susan Peters

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Selected Abstracts of the 19th International Workshop on Neonatology and Pediatrics; Cagliari (Italy); October 18-21, 2023 by -

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Novel frameshift mutation in LIS1 gene is a probable cause of lissencephaly: a case report by Camila Simoes, Martín Graña, Soledad Rodriguez, Federico Baltar Yanes, Alejandra Tapié, Nicolás Dell'Oca, Hugo Naya, Víctor Raggio, Lucía Spangenberg

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Is Newborn Screening the Ultimate Strategy to Reduce Diagnostic Delays in Pompe Disease? The Parent and Patient Perspective by Raymond Saich, Renee Brown, Maddy Collicoat, Catherine Jenner, Jenna Primmer, Beverley Clancy, Tarryn Holland, Steven Krinks

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Genetic Heterogeneity in Bartter Syndrome: Clinical and Practical Importance by Laura Florea, Lavinia Caba, Eusebiu Vlad Gorduza

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Severe neonatal hypercalcemia in 4-month-old, presented with respiratory distress and chest wall deformity by Akram Aljahdali

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Pseudoxanthoma Elasticum: Report of Two Cases by Israel Antonio Esquivel-Pinto, Maria Elisa Vega-Memije, Araceli Alvarado-Delgadillo, Andres Eduardo Campuzano-Garcia, Amairani Manríquez-Robles

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Oral focal mucinosis of palatal mucosa: A rare case report by Bharti Vipin, Singh Jagmohan

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Intravenous leiomyomatosis misdiagnosed with large thrombosis in inferior vena cava by Youngsin Han, Youn-Jee Chung, Inhye Shin, Jung Yoon Park, Suhyun Shim, Ayah Hijazi, Jae-Yen Song, Hyun Hee Cho, Mee-Ran Kim

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Chronic Mastocytosis. Case Report and Literature Review by Iraima Mayón Moya, Danibys Garcell Peña, José Manuel Peraza Ramos

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Fibroblastic rheumatism treated with methotrexate and colchicine by J. de Carvalho, P. Criado

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Langerhans cell histiocytosis presented as bilateral otitis media with effusion, a rare case report by Soheil Motamed, Maryam Amizadeh, Shahriar Dabiri

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Deletion Syndrome 22q11.2: A Systematic Review by Jonathan Cortés-Martín, Nuria López Peñuela, Juan Carlos Sánchez-García, Maria Montiel-Troya, Lourdes Díaz-Rodríguez, Raquel Rodríguez-Blanque

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Idiopathic Myointimal Hyperplasia of Mesenteric Veins of the Ileum and Colon in a Patient with Crohn's Disease: A Case Report and Brief Review of the Literature by Sharon J. Song, Stuti G. Shroff

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Leveraging Quantitative Systems Pharmacology Approach into Development of Human Recombinant Follistatin Fusion Protein for Duchenne Muscular Dystrophy by Hoa Q. Nguyen, Andrea Iskenderian, David Ehmann, Paul Jasper, Zhiwei Zhang, Haojing Rong, Devin Welty, Rangaraj Narayanan

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Model of nursing care for patients with Brugada syndrome according to the international ICNP® by Aleksandra Stosiek, Jowita Pryszcz, Dominik Budzyna-Dawidowski, Beata Jankowska-Polańska

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