Search Results - "rare diseases"

The impact of improving haemophilia A management within the Spanish National Healthcare System: a social return on investment analysis by Inmaculada Soto, José Mateo, Daniel-Aníbal, Beatriz Gil, Elena Ruiz-Beato, Yoana Ivanova, Teresa Martín Lorenzo, Paulina Maravilla-Herrera, Álvaro Hidalgo-Vega, María Merino

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Pulmonary hypertension- a novel phenotypic hypothesis of Kabuki syndrome: a case report and literature review by Xiao-xian Deng, Bo-wen Jin, Shan-shan Li, Hong-mei Zhou, Qun-shan Shen, Yun-yan Li

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The evaluation of IgG4 and IgG expression in cutaneous Rosai-Dorfman disease by Puyu Zou, Yi Zhan, Ruzeng Xue, Yu Liu, Guiying Zhang

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Pseudomyxoma Peritonie Is A Rare Clinically Challenging Entity: Review Of Three Cases by Irum Masood, Haris Rasheed, Ahmed Raheem

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Stigma and psychological distress among pediatric participants in the FD/MAS Alliance Patient Registry by Amanda Konradi

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Sclerosing Extramedullary Hematopoietic Tumor: A Case Report by Dapeng Wang MD, PhD, Eduardo Castro MD, Arundhati Rao MD, PhD, Christopher Michael McPhaul MD

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Quality of life in patients with neurofibromatosis type 1: a nationwide database study in Japan from 2015 to 2019 by Takashi Yamauchi, Machi Suka

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Bladder Urothelial Carcinoma in a Child: Case Report and Review of Literature by Marian Hanae Oda, Danilo Vicente dos Santos, Adria Karina Farias, Leilane de Oliveira, Bruno Pinheiro Falcão, Nicholas J. Ahn, Antônio Carlos Amarante, Graziele Moraes Losso, Andre Ivan Bradley dos Santos Dias, Miguel Angelo Agulham, Camila Girardi Fachin

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Clinical features of von Zumbusch type of generalized pustular psoriasis in children: a retrospective study of 26 patients in southwestern China by Qian Wang, Wei Liu, Lixia Zhang

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Bowel perforation in a pediatric patient with congenital generalized lipodystrophy type 4 by Amanda Muñoz, Andrei Radulescu, Joanne Baerg, Yomara Mendez, Faraz A. Khan

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Severe clinical manifestation of mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency associated with two novel mutations: a case report by Hao Liu, Jing-kun Miao, Chao-wen Yu, Ke-xing Wan, Juan Zhang, Zhao-jian Yuan, Jing Yang, Dong-juan Wang, Yan Zeng, Lin Zou

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Subcutaneous fat necrosis in newborns: a systematic literature review of case reports and model of pathophysiology by Leonie Frank, Stephanie Brandt, Martin Wabitsch

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A case of human papillomavirus infection and vulvar cancer in a young patient - "hit and run" theory by Stoyan Kostov, Deyan Dzhenkov, Dimitar Metodiev, Yavor Kornovski, Stanislav Slavchev, Yonka Ivanova, Angel Yordanov

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Patient-reported burden of hereditary transthyretin amyloidosis on functioning and well-being by Andrew Lovley, Kimberly Raymond, Spencer D. Guthrie, Michael Pollock, Vaishali Sanchorawala, Michelle K. White

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Synovitis, Acne, Pustulosis, Hyperostosis and Osteitis (SAPHO) Syndrome with Henoch–Schönlein Purpura: A Case Report by Wang R, Li Y, Liu Y, Hou X, Li C

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Spleen-sparing excision of giant splenic hydatid cyst by L. Jarray, M. Boughdir, W. Maamatou, A. Daid, R. Ben Abdallah, S. Tlili, Y. Hellal, Y. Gharbi, N. Kaabar

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A quantitative systems pharmacology (QSP) platform for preclinical to clinical translation of in-vivo CRISPR-Cas therapy by Devam A. Desai, Stephan Schmidt, Rodrigo Cristofoletti

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Treatment Response to Acquired Aphasia with Seizures and Prognosis through Electroencephalogram on Cognitive Function by Chung Mo Koo, Se Hee Kim, Heung Dong Kim, Joon Soo Lee, Hoon-Chul Kang

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Primary fallopian tube carcinoma: Clinicopathological analysis of 12 cases by Yu-Che Ou, Hsiu-Yu Huang, Chao-Cheng Huang, Chan-Chao ChangChien, Chih-Wen Tseng, Hao Lin

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Functional characteristics of circulating granulocytes in severe congenital neutropenia caused by ELANE mutations by Qiao Liu, Martina Sundqvist, Wenyan Li, André Holdfeldt, Liang Zhang, Lena Björkman, Johan Bylund, Claes Dahlgren, Cai Wang, Xiaodong Zhao, Huamei Forsman

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