Human Genome Epidemiology Literature Finder
Rare Diseases
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Records 1 - 4 (of 4 Records) |
| Query Trace: Mucopolysaccharidosis Type Iva[original query] |
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| Molecular analysis in a GALNS study cohort of 15 Tunisian patients: description of a novel mutation. Diagnostic pathology 2016 11 (1): 51. Chkioua Latifa, Khedhiri Souhir, Hafsi Hind, Grissa Oussama, Ben Turkia Hadhami, Miled Abdelhedi, Laradi Sandrine, Froissart Roseline, Alif Naj |
| Mutation analysis and pathogenicity identification of Mucopolysaccharidosis type IVA in 8 south China families. Gene 2018 11 686 261-269. Xie Jie, Pan Jingxin, Guo Dongwei, Pan Weimian, Li Rong, Guo Chunmiao, Du Minlian, Jiang Weiying, Guo Yib |
| Molecular characterization of mucopolysaccharidosis type IVA patients in the Andean region of Colombia. American journal of medical genetics. Part C, Seminars in medical genetics 2021 9 187 (3): 388-395. Pachajoa Harry, Acosta Maria Amparo, Alméciga-Díaz Carlos J, Ariza Yoseth, Diaz-Ordoñez Lorena, Caicedo-Herrera Gabriela, Cuartas Daniel, Nastasi-Catanese Jose Antonio, Ramírez-Montaño Diana, Silva Yiseth Katherine, Moreno Lina, Satizabal Jose, Garcia Natalia, Montoya Jorge, Prada Carlos, Porras Gloria, Velasco Harvy, Candelo Estephan |
| Investigation of GALNS variants and genotype-phenotype correlations in a large cohort of patients with mucopolysaccharidosis type IVA. Journal of inherited metabolic disease 2022 2 45 (3): 593-604. Yi Mengni, Wang Yu, Gao Xiaolan, Han Lianshu, Qiu Wenjuan, Gu Xuefan, Maegawa Gustavo H B, Zhang Huiw |
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