Human Genome Epidemiology Literature Finder
Records 1 - 9 (of 9 Records) |
Query Trace: Mucopolysaccharidosis I and GALNS[original query] |
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Mucopolysaccharidosis IVA: correlation between genotype, phenotype and keratan sulfate levels. Molecular genetics and metabolism 0 110 (1-2): 129-38. D?ng V? Chí, Tomatsu Shunji, Montaño Adriana M, Gottesman Gary, Bober Michael B, Mackenzie William, Maeda Miho, Mitchell Grant A, Suzuki Yasuyuki, Orii Tad |
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 |
Determination of genotypic and clinical characteristics of Colombian patients with mucopolysaccharidosis IVA. The application of clinical genetics 2018 5 11 45-57. Tapiero-Rodriguez Sandra M, Acosta Guio Johanna C, Porras-Hurtado Gloria Liliana, García Natalia, Solano Martha, Pachajoa Harry, Velasco Harvy |
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 |
Mutation spectrum and pivotal features for differential diagnosis of Mucopolysaccharidosis IVA patients with severe and attenuated phenotype. Gene 2019 4 704 59-67. Tüysüz Beyhan, Alkaya Dilek Uluda?, Toksoy Güven, Güne? Nilay, Y?ld?r?m Timur, Bayhan ?lhan Avni, Uyguner Zehra O |
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 |
Demographic, clinical, and ancestry characterization of a large cluster of mucopolysaccharidosis IV A in the Brazilian Northeast region. American journal of medical genetics. Part A 2021 6 185 (10): 2929-2940. Dos Santos-Lopes Simone Silva, de Oliveira Jessica Maria Florêncio, de Queiroga Nascimento Denise, Montenegro Yorran Hardman Araújo, Leistner-Segal Sandra, Brusius-Facchin Ana Carolina, Eufrazino Gondim Cátia, Giugliani Roberto, de Medeiros Paula Frassinetti Vasconcel |
The GALNS p.P77R variant is a probable Gujarati-Indian founder mutation causing Mucopolysaccharidosis IVA syndrome. BMC genomics 2022 Jun 23 (1): 458. Sheth Harsh, Naik Premal, Shah Maulin, Bhavsar Riddhi, Nair Aadhira, Sheth Frenny, Sheth Jaye |
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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- Page last updated:Apr 29, 2024
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