Search Results - "rare diseases"

Xantoma plano difuso normolipêmico idiopático com hiperesplenismo Diffuse plane idiopathic normolipemic xanthoma with hiperesplenism by Danielle Machado da Silva, Jorge João Chacha, Nayara de Castro Wiziack, Luiz Carlos Takita, Fernando Kenzo Hayashi

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Untangling the clinical and economic burden of hospitalization for cardiac amyloidosis in the United States by Quock TP, Yan T, Tieu R, D'Souza A, Broder MS

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Abnormal eruption of teeth in relation to FGFR1 heterozygote mutation: a rare case of osteoglophonic dysplasia with 4-year follow-up by Yuchun Zou, Hanyu Lin, Weijia Chen, Lin Chang, Senxin Cai, You-Guang Lu, Linyu Xu

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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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Zinner Syndrome: Case Series and Literature Review by D. A. Kushnerova, V. S. Tikhonova, I. A. Blokhin, A. P. Gonchar

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Type VII Aplasia Cutis Congenita in Neonates Related to Maternal HBV Infection? Case Report and Literature Review by Li G, Zhang A, Yang S, Lin N, Fang X

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Acute Eosinophilic Pneumonia Secondary to Menthol Cigarette Use: A Rare Phenomenon With a Review of Literature by Prateek Suresh Harne MD, Suman Rao MD, Muhammad Malik MD, Zachary Shepherd MD

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Management of paediatric psoas abscess: our experience by Kiran Khedkar, Charu Sharma, Vikrant Kumbhar, Mukta Waghmare, Pankaj Dwivedi, Suraj Gandhi, Hemanshi Shah

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Síndrome de Wunderlich, uma causa rara de dor abdominal by Pedro Oliveira, Paulo Torres-Ramalho, Luis Lopes

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A Case of a Patient with Adhesive Small Bowel Obstruction in Pregnancy after Extensive Myomectomy for Diffuse Uterine Leiomyomatosis by Yuri Suminaga, Mana Taki, Haruko Okamoto, Yosuke Kawamura, Yusuke Sagae, Masumi Sunada, Yoshitsugu Chigusa, Akihito Horie, Masaki Mandai, Haruta Mogami

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GM2 Gangliosidosis (Tay-Sachs Disease), type I, Infantile Form: Clinical Case by Artem A. Babkin, Vladimir A. Shcherbak, Elena V. Leontieva, Lada A. Kirii

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'It breaks my heart': Healthcare practitioners' caring for families with epidermolysis bullosa by Antoinette V. Chateau, Colleen Aldous, Ncoza Dlova, David Blackbeard

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The application of whole-exome sequencing in the early diagnosis of rare genetic diseases in children: a study from Southeastern China by Guihua Lai, Qiying Gu, Zhiyong Lai, Haijun Chen, Junkun Chen, Jungao Huang

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MicroRNAs and potential targets in osteosarcoma: review by Valerie B. Sampson, Soonmoon eYoo, Asmita eKumar, Nancy S. Vetter, E. Anders Kolb

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Benign multicystic peritoneal mesothelioma: literature review and update by Momal Tara Chand, Jacob Edens, Tayson Lin, Ian Anderson, Richard Berri

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Erythema Multiforme Major Associated With Community-Acquired Pneumonia: Lessons From a Case Report by Xiaomei Fan, Yong Luo, Jieluan Lu, Jinji Xu, Qing Chen, Huijuan Guo, Ping Jin

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A Rapid Screening Method for the Measurement of Neonatal Total Homocysteine in Dried Blood Spots by Liquid Chromatography-Tandem Mass Spectrometry by Rose Maase, Victor Skrinska, Noura Younes, Lubna Hassan, Rola Mitri, Dietrich Matern, Piero Rinaldo, Coleman Turgeon

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Case Report: Clinical and Immunological Features of a Chinese Cohort With Mycoplasma-Induced Rash and Mucositis by Lipin Liu, Ying Wang, Jinqiao Sun, Wenjie Wang, Jia Hou, Jia Hou, Xiaochuan Wang

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A Missense Mutation of the α-Galactosidase A Gene in a Chinese Family of Fabry Disease with Renal Failure by Chunli Wang, Yang Wang, Feng Zhu, Jing Xiong

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How are health technology assessment bodies responding to the assessment challenges posed by cell and gene therapy? by Michael Drummond, Oriana Ciani, Giulia Fornaro, Claudio Jommi, Eva Susanne Dietrich, Jaime Espin, Jean Mossman, Gerard de Pouvourville

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