Human Genome Epidemiology Literature Finder
Rare Diseases
Records 1 - 8 (of 8 Records) |
Query Trace: Mucopolysaccharidosis Type Ii[original query] |
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Mucopolysaccharidosis type II: identification of 30 novel mutations among Latin American patients. Molecular genetics and metabolism 2014 Feb 111 (2): 133-8. Brusius-Facchin A C, Schwartz I V D, Zimmer C, Ribeiro M G, Acosta A X, Horovitz D, Monlleó I L, Fontes M I B, Fett-Conte A, Sobrinho R P Oliveira, Duarte A R, Boy R, Mabe P, Ascurra M, de Michelena M, Tylee K L, Besley G T N, Garreton M C V, Giugliani R, Leistner-Segal |
Deep Genotyping of the IDS Gene in Colombian Patients with Hunter Syndrome. JIMD reports 2015 19 101-9. Galvis Johanna, González Jannet, Uribe Alfredo, Velasco Har |
Wide allelic heterogeneity with predominance of large IDS gene complex rearrangements in a sample of Mexican patients with Hunter syndrome. Clinical genetics 2016 Jan . Alcántara-Ortigoza Miguel A, García-de Teresa Benilde, González-Del Angel Ariadna, Berumen Jaime, Guardado-Estrada Mariano, Fernández-Hernández Liliana, Navarrete-Martínez Juana Inés, Maza-Morales Mariana, Rius-Domínguez Roc |
Identification and Functional Characterization of IDS Gene Mutations Underlying Taiwanese Hunter Syndrome (Mucopolysaccharidosis Type II). International journal of molecular sciences 2019 12 21 (1): . Lin Hsiang-Yu, Tu Ru-Yi, Chern Schu-Rern, Lo Yun-Ting, Fran Sisca, Wei Fang-Jie, Huang Sung-Fa, Tsai Shin-Yu, Chang Ya-Hui, Lee Chung-Lin, Lin Shuan-Pei, Chuang Chih-Kua |
The mutational spectrum of hunter syndrome reveals correlation between biochemical and clinical profiles in Tunisian patients. BMC medical genetics 2020 5 21 (1): 111. Chkioua L, Grissa O, Leban N, Gribaa M, Boudabous H, Turkia H Ben, Ferchichi S, Tebib N, Laradi |
Genotype-phenotype studies in a large cohort of Brazilian patients with Hunter syndrome. American journal of medical genetics. Part C, Seminars in medical genetics 2021 5 187 (3): 349-356. Josahkian Juliana Alves, Brusius-Facchin Ana Carolina, Netto Alice Brinckmann Oliveira, Leistner-Segal Sandra, Málaga Diana Rojas, Burin Maira Graeff, Michelin-Tirelli Kristiane, Trapp Franciele Barbosa, Cardoso-Dos-Santos Augusto César, Ribeiro Erlane Marques, Kim Chong Ae, de Siqueira Ana Cecília Menezes, Santos Mara Lucia, do Valle Daniel Almeida, da Silva Raquel Tavares Boy, Horovitz Dafne Dain Gandelman, de Medeiros Paula Frassinetti Vasconcelos, de Souza Carolina Fischinger Moura, Giuliani Liane de Rosso, Miguel Diego Santana Chaves Geraldo, Santana-da-Silva Luiz Carlos, Galera Marcial Francis, Giugliani Rober |
Detection of Mosaic Variants in Mothers of MPS II Patients by Next Generation Sequencing. Frontiers in molecular biosciences 2021 11 8 789350. Oliveira Netto Alice Brinckmann, Brusius-Facchin Ana Carolina, Leistner-Segal Sandra, Kubaski Francyne, Josahkian Juliana, Giugliani Rober |
Clinical characteristics and genotypes of 201 patients with mucopolysaccharidosis type II in China: A retrospective, observational study. Clinical genetics 2023 3 . Zhong Lin, Gao Xiaolan, Wang Yu, Qiu Wenjuan, Han Lianshu, Gu Xuefan, Zhang Huiw |
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