Search Results - "rare diseases"

Progressive pseudorheumatoid dysplasia with new-found gene mutation of Wntl inducible signaling pathway protein 3 by Wenji Chen, Shiyan Mo, Gui Luo, Yanyan Wang, Xiaohu Deng, Jian Zhu, Wei Zhao

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Ischemic stroke in a pediatric patient - a case report by Aneta Głaz, Kinga Knop, Anna Kochanowska, Karol Nowicki-Sak, Magdalena Woźniak

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Adenocarcinoma de Células Claras de Endocérvice em Menina de 7 anos Clear Cell Adenocarcinoma of the Endocervix in a 7-year-old Child by Marta Francis Benevides Rehme, Mauro Fernando Kürten Ihlenfeld, Ana Carolina Silva Chuery

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Incidence and Severity of SARS-CoV-2 Infections in People With Primary Ciliary Dyskinesia by Eva S. L. Pedersen, Leonie D. Schreck, Leonie D. Schreck, Myrofora Goutaki, Myrofora Goutaki, Sara Bellu, Fiona Copeland, Jane S. Lucas, Jane S. Lucas, Marcel Zwahlen, Claudia E. Kuehni, Claudia E. Kuehni

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A Rare Cause of Recurrent Pain in Athletes: Synovial Hemangioma by Marco A. P. de Andrade MD, PhD, Igor G. N. Reis MD, Luciene Mota de Andrade MD, Túlio Vinícius de Oliveira Campos MD, PhD, Frederico Silva Pimenta MD, Guilherme Moreira de Abreu e Silva MD, MSc, PhD

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Practical approaches to antimicrobial therapy for infective endocarditis in the context of national and European clinical guidelines by E. O. Kotova, Zh. D. Kobalava

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Pneumonia after Kidney Transplantation in Children by Soojin Hwang, Jiwon Jung, Joo Hoon Lee, Young Seo Park

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Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy (SMA-PME): three new cases and review of the mutational spectrum by Ali Najafi, Behnoosh Tasharrofi, Farshid Zandsalimi, Maryam Rasulinezhad, Masood Ghahvechi Akbari, Gholamreza Zamani, Mahmoud Reza Ashrafi, Morteza Heidari

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Cost-effectiveness analysis of bevacizumab combined with lomustine in the treatment of progressive glioblastoma using a Markov model simulation analysis by Zhaoyan Chen, Fangyuan Tian, Ying Zhang

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Clinical Characteristics and Outcomes in Patients With Localized Gastric Langerhans Cell Histiocytosis: A Case Series by Tae-Se Kim, Soomin Ahn, Yang Won Min, Hyuk Lee, Jun Haeng Lee, Poong-Lyul Rhee, Jae J. Kim, Byung-Hoon Min

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Proteomics insights into medullary sponge kidney (MSK) disease: review of the recent results of an Italian research collaborative network. by Simona Granata, Maurizio Bruschi, Giovanni Candiano, Valeria Catalano, Gian Marco Ghiggeri, Giovanni Stallone, Gianluigi Zaza

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Case Report: effect of lumasiran treatment in a late preterm baby with antenatal diagnosis of primary hyperoxaluria type 1 by Francesca Taroni, Alfredo Berrettini, Michele Gnech, Francesca Rella, Gian Antonio Manzoni, Giovanni Montini, Giovanni Montini

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Etiology and Outcome of Acute Liver Failure in Children-The Experience of a Single Tertiary Care Hospital from Romania by Alina Grama, Cornel Olimpiu Aldea, Lucia Burac, Dan Delean, Bogdan Bulata, Claudia Sirbe, Emanuela Duca, Dora Boghitoiu, Alexandra Coroleuca, Tudor Lucian Pop

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Interval laparoscopic ileocecectomy in a child with cecal diverticulitis by John D. Horton, George E. Black IV, Mauricio A. Escobar Jr

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Multimodal optical imaging and genetic features of AB variant GM2 gangliosidosis: a case report by Qin Chen, Fang Lu

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Development of the Impact of Juvenile Metachromatic Leukodystrophy on Physical Activities scale by T. Michelle Brown, Susan Martin, Sheri E. Fehnel, Linda S. Deal

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Case report: Comprehensive clinical, pathological and genetic investigations to decipher the background of cyclic thrombocytopenia by Zsófia Flóra Nagy, Kristóf Árvai, Péter Lakatos, Ildikó Beke Debreceni, Balázs Szili, Ildikó Istenes, Csaba Bödör, Judit Demeter

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Progeria (Hutchinson-Gilford Syndrome): Literature Review and Clinical Case by Natalia V. Buchinskaya, Aida Zh. Akhenbekova, Aliya A. Bugybay, Mikhail M. Kostik

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Lupus eritematoso neonatal: reporte de cuatro casos Neonatal lupus erythematosus: a report of four cases by Maria Fernanda Perez, Maria Eugenia de Torres, María Marta Buján, Agustina Lanoël, Andrea Bettina Cervini, Adrián Martín Pierini

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Three Siblings with Idiopathic Hypogonadotropic Hypogonadism in a Nonconsanguineous Family: A Novel KISS1R/GPR54 Loss-of-Function Mutation by Özlem Nalbantoğlu, Gülçin Arslan, Özge Köprülü, Filiz Hazan, Semra Gürsoy, Behzat Özkan

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