Search Results - "rare diseases"

KIT Mutation Associated with Depigmented Patches Regression and Multiple Café-au-lait Macules Development in a Patient with Piebaldism: A Case Report by Budair FM

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CLOVES syndrome caused by mosaic mutation in the PIK3CA gene identified in fibroblasts by Magdalena Kłaniewska, Malgorzata Rydzanicz, Joanna Kosińska, Mateusz Biela, Anna Walczak, Elżbieta Szmida, Anna Rozensztrauch, Rafał Płoski, Robert Śmigiel

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Case Report: A Case of Infant Bronchial Dieulafoy's Disease and Article Review by Yang Chen, Yiting Mao, Xingfeng Cheng, Ruihua Xiong, Ying Lan, Feng Chen, Furong Zhang, Jun Liu, Yanting Wu

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Nodular Regenerative Hyperplasia of the Liver in Rheumatic Disease: Cases and Review of the Literature by Prarthana Jain DO, MPH, Sagar Patel MD, Heather N. Simpson MD, Richard M. Silver MD, David N. Lewin MD, Ruth C. Campbell MD, MSPH, Marcelo Guimaraes MD, MBA, Katherine C. Silver MD, MSCR

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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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International comparison of availability for orphan drugs: focused on approved orphan drugs in South Korea by Eun Young Shin, Young Jun Hong, Kyung Min Lim, Tae Hyang Kim, Jong Hyuk Lee

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Clinical management and obstetric outcome in WFS1 Wolfram syndrome spectrum disorder: A case report and literature review by Kai Zhang, Xin Cui, Yan Long

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Rothmund-Thomson Syndrome: A 13-Year Follow-Up by Guillermo Antonio Guerrero-González, Sylvia Aideé Martínez-Cabriales, Aideé Alejandra Hernández-Juárez, José de Jesús Lugo-Trampe, Nelly Alejandra Espinoza-González, Minerva Gómez-Flores, Jorge Ocampo-Candiani

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Calcium pyrophosphate dihydrate deposition disease in the temporomandibular joint: diagnosis and treatment by Kwang-Jun Kwon, Hyun Seok, Jang-Ha Lee, Min-Keun Kim, Seong-Gon Kim, Hyung-Ki Park, Hang-Moon Choi

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An AlphaFold Structure Analysis of COQ2 as Key a Component of the Coenzyme Q Synthesis Complex by María de los Ángeles Vargas-Pérez, Damien Paul Devos, Guillermo López-Lluch

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Treatment cost of narcolepsy with cataplexy in Central Europe by Maresova P, Novotny M, Klímová B, Kuča K

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High-Throughput/High Content Imaging Screen Identifies Novel Small Molecule Inhibitors and Immunoproteasomes as Therapeutic Targets for Chordoma by Amrendra K. Ajay, Philip Chu, Poojan Patel, Christa Deban, Chitran Roychowdhury, Radhika Heda, Ahmad Halawi, Anis Saad, Nour Younis, Hao Zhang, Xiuju Jiang, Mahmoud Nasr, Li-Li Hsiao, Gang Lin, Jamil R. Azzi

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A focus on melorheostosis disease: a literature review and case report of femoral-acetabular impingement due to melorheostosis treated with surgical hip osteoplasty by M. Ruggiero, A. Conforti, A. Culcasi, C. Mazzanti, G. Sibahi, N. Rani, S. Sartini

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Lanadelumab Injection Treatment For The Prevention Of Hereditary Angioedema (HAE): Design, Development And Place In Therapy by Bova M, Valerieva A, Wu MA, Senter R, Perego F

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Two cases of infantile-onset primary generalized glucocorticoid hypersensitivity and the effect of mifepristone by Xiu Zhao, Zhongwei Xu, Huiping Su, Rongfei Zheng, Min Zhan, Yuge Huang, Zhe Su

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Rare Fetus-in-Fetu: Experience From a Large Tertiary Pediatric Referral Center by Mao Xiaowen, Cheng Lingxi, Lin Song, Pan Shengbao, Yang Xiaohong, Yang Xinghai

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Clinical case of the idiopathic form of Sweet's syndrome by Igor A. Stepin, Aleksandra V. Serezhkina, Irina G. Khmelevskaya, Tatiana A. Minenkova, Natalya S. Razinkova

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Exploring the Chronic Nature of Generalized Pustular Psoriasis [Podcast] by Elewski B, Lebwohl MG

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Incarcerated Amyand hernia with necrosis of the appendix and cecum by Renato Queiroga de Almeida, Aline Zara, Daniela Ferreira, Fernando Schulz, Jaques Waisberg

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Lack of Information on the Effects of COVID-19 on Rare Pathologies Has Further Hampered Access to Healthcare Services by Emilia Severin, Dorica Dan

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