Human Genome Epidemiology Literature Finder
Records 1 - 4 (of 4 Records) |
Query Trace: Splenomegaly and GBA[original query] |
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[Characterization of the genotypes of patients with Gaucher disease type 1 in the Russian Federation]. Terapevticheski? arkhiv 2013 85 (7): 72-5. Lukina K A, Fevraleva I S, Sysoeva E P, Mamonov B E, Sudarikov A B, Lukina E |
A pilot screening of high-risk Gaucher disease children using dried blood spot methods in Shandong province of China. Orphanet journal of rare diseases 2018 4 13 (1): 48. Lei Ke, Zhao Yanxia, Sun Lirong, Liang Hui, Luo Ronghua, Sun Xiaojing, Tao Yanling, Chen Lijun, Zhang Lingling, Li Aimin, Li Fu, Ding Hongfa |
Comprehensive clinical, biochemical and genetic screening reveals four distinct GBA genotypes as underlying variable manifestation of Gaucher disease in a single family. Molecular genetics and metabolism reports 2019 Dec 21 100532. Cullufi P, Tabaku M, Beetz C, Tomori S, Velmishi V, Gjikopulli A, Bauer P, Wirth S, Rolfs |
A rare homozygous p.Arg87Trp variant of the GBA gene in Gaucher disease: A case report. Clinical case reports 2022 5 10 (5): e05846. Jilani Houweyda, Hsoumi Faten, Rejeb Imen, Elaribi Yasmina, Hizem Syrine, Sebai Molka, Rolfs Arndt, Benjemaa Lam |
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