Search Results - "rare diseases"

Continuous renal replacement therapy rescued life-threatening capillary leak syndrome in an extremely-low-birth-weight premature: a case report by Li-Fen Yang, Jia-Chang Ding, Ling-Ping Zhu, Li-Xia Li, Meng-Qi Duan, Zhuang-gui Chen, Xin-Yi Tang, Ya-Ting Li

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Neonatal Diabetes Mellitus Due to KCNJ11 (KIR6.2) Mutation Successfully Treated with Sulfonylurea by Sehun Jang, Misun Yang, So Yoon Ahn, Se In Sung, Yun Sil Chang, Won Soon Park

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Primary failure of eruption (PFE) - a systematic literature review by Hubert Nieścior, Dominika Sereda, Aleksandra Metelska, Jakub Metelski, Monika Szwed

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An International Collaborative Initiative to Establish a Quality-of-Life Questionnaire for Children and Adolescents with Repair of Esophageal Atresia in 14 Countries by The International EA-QOL Group

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Is an association of acro-osteolysis, bone fragility, and enchondromatosis a newfound disease caused by an amplification of PTHLH? A case report by Stéphane Echaubard, Céline Pebrel-Richard, Aurélie Chausset, Jean-Louis Kemeny, Etienne Merlin, Fanny Laffargue

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P63-negative pulmonary NUT carcinoma arising in the elderly: a case report by Satoe Numakura, Koji Saito, Noriko Motoi, Taisuke Mori, Yuichi Saito, Fumi Yokote, Yasuyuki Kanamoto, Momoko Asami, Takashi Sakai, Yoshikane Yamauchi, Yukinori Sakao, Hiroshi Uozaki, Masafumi Kawamura

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Biliary atresia recent insight by Ramy Mohamed Ghazy, Nermin M. Adawy, Mohamed Ahmed Khedr, Mohamed Mostafa Tahoun

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Plasma exchange is the hope for critically ill children with life-threatening autoimmune hemolytic anemia by Noha El-Anwar, Hafez Bazaraa, Fatma Abdel Maksoud, Yasmin Ramadan

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Primary cutaneous follicle centre lymphoma with secondary systemic evolution by Andy Li, Jacqueline Lehmann‐Che, Jérôme Champ, Jacqueline Rivet, Marie‐Dominique Vignon‐Pennamen, Samia Mourah, Jean‐Michel Cayuela, Clémence Lepelletier, Baptiste Louveau, Maëlle Dumont, Jana Alhage, Caroline Ram‐Wolff, Jean‐David Bouaziz, Martine Bagot, Adèle De Masson, Maxime Battistella

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The association of betel quid, alcohol, and cigarettes with salivary gland tumor-A case-control study by Tsung-I. Li, Meng-Ta Chiang, Kuo-Chou Chiu, Ching-Huang Lai, Shyun-Yeu Liu, Yi-Shing Shieh

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Acute retinal pigment epitheliitis and dosimetric follow-up: a case report by Tetiana Babenko, Pavlo Fedirko, Stanislav Saksonov, Iryna Shevchenko, Māra Pilmane, Valentyna Vasylenko, Oleksandra Korobova, Natalia Garkava, Mykola Kuriata

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Baseline characteristics and analysis of predictors of the Outcome of septic pulmonary embolism in children: a retrospective observational study by Rehab Elmeazawy, Doaa El Amrousy

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Hepatic mesenchymal hamartoma masquerading as neonatal unconjugated hyperbilirubinemia: a case report by Shirbin Joe Mathews, Athiya Perveen K, Bini Mariam Chandy, Ria K. Mathew

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Queratose folicular espinulosa decalvante: relato de caso Keratosis follicularis spinulosa decalvans: case report by Alceu L. C. V. Berbert, Sônia A. O. Mantese, Ademir Rocha, Cláudia P. Cherin, Carolina M. Couto

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A Clinical Case of the Hereditary Transthyretin Amyloidosis by E. V. Reznik, T. L. Nguyen, S. V. Borisovskaya, L. V. Brylev, A. V. Zhelnin, N. E. Seksyaev

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Case report: Neonatal autoimmune lymphoproliferative syndrome with a novel pathogenic homozygous FAS variant effectively treated with sirolimus by Fawzia M. Elgharbawy, Fawzia M. Elgharbawy, Mohammed Yousuf Karim, Mohammed Yousuf Karim, Dina Sameh Soliman, Dina Sameh Soliman, Amel Siddik Hassan, Anoop Sudarsanan, Ashraf Gad, Ashraf Gad

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Folliculitis Decalvans: A Review of Current Treatment Modalities by Wiktoria Julia, Kamila Szewczyk, Paulina Pytel, Bartłomiej Szewczyk, Szymon Wiśniewski, Weronika Hołownia

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A Review of Childhood Acute Myeloid Leukemia: Diagnosis and Novel Treatment by Serena Tseng, Mu-En Lee, Pei-Chin Lin

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Acrodermatite enteropática: relato de caso em criança com doença de Crohn by Livia Caramaschi Florêncio, Eloana Pasqualin Lange, Elizandra Gomes Pereira, Mariana Bueno Xavier Silva, Gabriela Roncada Haddad

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Benign metastasizing leiomyoma presenting as multiple cystic pulmonary nodules: a case report by Yeong Hun Choe, So Yeon Jeon, Yoon Chae Lee, Myung Ja Chung, Seung Yong Park, Yong Chul Lee, So Ri Kim

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