Search Results - "rare diseases"

A clinico-epidemiological study of childhood herpes zoster by Barnali Mitra, Ajay Chopra, Krishna Talukdar, Neerja Saraswat, Debdeep Mitra, Joyjit Das

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The Evolution of AIFA Registries to Support Managed Entry Agreements for Orphan Medicinal Products in Italy by Entela Xoxi, Karen M Facey, Americo Cicchetti

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A Case Report on Rare Presentation of Sporadic Disease: Dermatomyositis Sine Dermatitis-Diagnosis and Management by Ilma Vahora MD, Ajay Lingireddy MD, Sahithi Nadella MD, Bhavi Trivedi MD, Fatma Dihowm MD

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Functional Characterization of Novel ATP7B Variants for Diagnosis of Wilson Disease by Sarah Guttmann, Friedrich Bernick, Magdalena Naorniakowska, Ulf Michgehl, Sara Reinartz Groba, Piotr Socha, Andree Zibert, Hartmut H. Schmidt

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Dermatological Considerations in the Diagnosis and Treatment of Marginal Zone Lymphomas by Ronchi A, Sica A, Vitiello P, Franco R

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Pompe disease - What do we currently know about the disease? by Edyta Białowąs, Magdalena Mazurek, Artur Aghadi, Iwona Cuber, Ewelina Dybała, Karolina Szela

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Mitral Valve Endocarditis-Related Stroke: A Case Report and Literature Review by Darius Adomavicius, Mark Bock MD, Christian-Friedrich Vahl MD, Ekkehard Siegel MD

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Retrospective Evaluation of Childhood Cutaneous Mastocytosis Cases by Burcu Akıncı, Hamiyet Hekimci Özdemir, Nihal Özdemir Karadaş, Akkız Şahin Yaşar, Zuhal Önder Siviş, Yeşim Aydınok, Kaan Kavaklı, Can Balkan, Deniz Yılmaz Karapınar

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Allergic Colitis in Infants Related to Cow's Milk: Clinical Characteristics, Pathologic Changes, and Immunologic Findings by Man-Chun Yu, Chia-Lun Tsai, Yao-Jong Yang, Sing-San Yang, Li-Hui Wang, Chung-Ta Lee, Ren-Long Jan, Jiu-Yao Wang

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Exploring the Clinical Presentation, Course, and Burden of Disease in Generalized Pustular Psoriasis [Podcast] by Merola JF, Amin AZ

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Bioactivities and mechanisms of natural medicines in the management of pulmonary arterial hypertension by Zhijie Yu, Jun Xiao, Xiao Chen, Yi Ruan, Yang Chen, Xiaoyuan Zheng, Qiang Wang

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Outcome of Neonates with Agenesis of Septum Pellucidum: A Retrospective Single Center Study by Yong Hee Kim, Yeon Kyung Lee, Sun Young Ko, Son Moon Shin

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A girl with alopecia and skeletal deformities: Satoyoshi syndrome with review of literature by Vishalakshi S Pandit, K Udaya

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Alpha-1-antitripsin deficiency: the need of a new diagnostic algorithm for improving the diagnostic ability of perinatologists and pediatricians by Gavino Faa

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Clinical and genetic characteristics of pulmonary arterial hypertension in Lebanon by Ossama K. Abou Hassan, Wiam Haidar, Georges Nemer, Hadi Skouri, Fadi Haddad, Imad BouAkl

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Moya Moya's disease in a 20-year-old female patient - case report by Magdalena Hołowczuk, Anna Katarzyna Orzeł, Dominika Janeczko, Barbara Zofia Klatka, Michał Terpiłowski, Michał Tchórz

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Generalized pustular psoriasis in Brazil: A public claims database studyCapsule Summary by Gleison Vieira Duarte, MD, André Vicente Esteves de Carvalho, MD, PhD, Ricardo Romiti, MD, PhD, Antonio Gaspar, BS, Thaís Gomes de Melo, MD, PhD, Cinara Prata Soares, MD, PhD, Anna Rita Aguirre, MD, PhD

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Mitochondrial Abnormalities in Induced Pluripotent Stem Cells-Derived Motor Neurons from Patients with Riboflavin Transporter Deficiency by Fiorella Colasuonno, Enrico Bertini, Marco Tartaglia, Claudia Compagnucci, Sandra Moreno

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Acute Pancreatitis and Acute Recurrent Pancreatitis: Investigation of Clinical and Etiological Factors by Ferda Özbay Hoşnut, Gülseren Şahin, Ayla Akca Çağlar, Naz Guleray, Derya Erdoğan

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Factors affecting decisions of an HMO Drug Exemptions Committee on individual patient requests for coverage of non-formulary drugs by Yael Topol, Lior Weiss, Yossi Lomnicky, Inbal Yifrach-Damari, Noa Markovits, Ronen Loebstein, Itai Gueta

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