Human Genome Epidemiology Literature Finder
Rare Diseases
Records 1 - 8 (of 8 Records) |
Query Trace: Kearns-sayre Syndrome[original query] |
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A case of Kearns-Sayre syndrome with the 4,977-bp common deletion associated with a novel 7,704-bp deletion. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2003 1 23 (5): 247-50. Vázquez-Acevedo M, Vázquez-Memije M E, Mutchinick O M, Morales J J, García-Ramos G, González-Halphen |
Clinical features of A3243G mitochondrial tRNA mutation. Brain & development 2004 Oct 26 (7): 459-62. Chae Jong Hee, Hwang Hee, Lim Byung Chan, Cheong Hae Il, Hwang Yong Seung, Kim Ki Joo |
Diagnostic screening of mitochondrial DNA mutations in Australian adults 1990-2001. Internal medicine journal 0 34 (1-2): 10-9. Marotta R, Chin J, Quigley A, Katsabanis S, Kapsa R, Byrne E, Collins |
Clinical and Brain Magnetic Resonance Imaging Features in a Cohort of Chinese Patients with Kearns-Sayre Syndrome. Chinese medical journal 0 129 (12): 1419-1424. Yu Meng, Zhang Zhe, Wang Qing-Qing, Liu Jing, Zuo Yue-Huan, Yu Lei, Xiao Jiang-Xi, Zhang Wei, Yuan Yun, Wang Zhao-X |
Cerebrospinal fluid monoamines, pterins, and folate in patients with mitochondrial diseases: systematic review and hospital experience. Journal of inherited metabolic disease 2018 7 41 (6): 1147-1158. Batllori Marta, Molero-Luis Marta, Ormazabal Aida, Montero Raquel, Sierra Cristina, Ribes Antonia, Montoya Julio, Ruiz-Pesini Eduardo, O'Callaghan Mar, Pias Leticia, Nascimento Andrés, Palau Francesc, Armstrong Judith, Yubero Delia, Ortigoza-Escobar Juan D, García-Cazorla Angels, Artuch Rafa |
Sideroblastic anemia associated with multisystem mitochondrial disorders. Pediatric blood & cancer 2018 12 66 (4): e27591. Tesarova Marketa, Vondrackova Alzbeta, Stufkova Hana, Veprekova Lenka, Stranecky Viktor, Berankova Kamila, Hansikova Hana, Magner Martin, Galoova Natalia, Honzik Tomas, Vodickova Elena, Stary Jan, Zeman Ji |
The Phenotypic Spectrum of 47 Czech Patients with Single, Large-Scale Mitochondrial DNA Deletions. Brain sciences 2020 10 10 (11): . Anteneová Nicole, Kelifová Silvie, Kolá?ová Hana, Vondrá?ková Alžb?ta, Tóthová Iveta, Lišková Petra, Magner Martin, Záme?ník Josef, Hansíková Hana, Zeman Ji?í, Tesa?ová Markéta, Honzík Tom |
Folic acid inhibits 5-methyltetrahydrofolate transport across the blood-cerebrospinal fluid barrier: Clinical biochemical data from two cases. JIMD reports 2022 11 63 (6): 529-535. Akiyama Tomoyuki, Kuki Ichiro, Kim Kiyohiro, Yamamoto Naohiro, Yamada Yumi, Igarashi Kazuya, Ishihara Tomohiko, Hatano Yuya, Kobayashi Katsuhi |
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- Page last updated:May 20, 2024
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