Human Genome Epidemiology Literature Finder
Rare Diseases
Records 1 - 30 (of 33 Records) |
Query Trace: Mucopolysaccharidosis Type I[original query] |
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Mucopolysaccharidosis type VI: Identification of novel mutations on the arylsulphatase B gene in South American patients. Journal of inherited metabolic disease 2006 1 28 (6): 1027-34. Petry M F G, Nonemacher K, Sebben J C, Schwartz I V D, Azevedo A C M, Burin M G, de Rezende A R, Kim C A, Giugliani R, Leistner-Segal |
Short-incubation mass spectrometry assay for lysosomal storage disorders in newborn and high-risk population screening. Journal of chromatography. B, Analytical technologies in the biomedical and life sciences 2012 Nov 908 9-17. Mechtler Thomas P, Metz Thomas F, Müller Hannes G, Ostermann Katharina, Ratschmann Rene, De Jesus Victor R, Shushan Bori, Di Bussolo Joseph M, Herman Joseph L, Herkner Kurt R, Kasper David |
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 |
Neurocognition across the spectrum of mucopolysaccharidosis type I: Age, severity, and treatment. Molecular genetics and metabolism 0 116 (1-2): 61-8. Shapiro Elsa G, Nestrasil Igor, Rudser Kyle, Delaney Kathleen, Kovac Victor, Ahmed Alia, Yund Brianna, Orchard Paul J, Eisengart Julie, Niklason Gregory R, Raiman Julian, Mamak Eva, Cowan Morton J, Bailey-Olson Mara, Harmatz Paul, Shankar Suma P, Cagle Stephanie, Ali Nadia, Steiner Robert D, Wozniak Jeffrey, Lim Kelvin O, Whitley Chester |
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 |
Evaluation and identification of IDUA gene mutations in Turkishpatients with mucopolysaccharidosis type I. Turkish journal of medical sciences 2016 46 (2): 404-8. Atçeken Nazente, Özgül R?za Köksal, Yücel Yilmaz Didem, Tokatli Ay?egül, Co?kun Turgay, Sivri Hatice Serap, Dursun Ali, Karaca Mehm |
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 |
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 |
Mucopolysaccharidosis III in Taiwan: Natural history, clinical and molecular characteristics of 28 patients diagnosed during a 21-year period. American journal of medical genetics. Part A 2018 8 176 (9): 1799-1809. Lin Hsiang-Yu, Chuang Chih-Kuang, Lee Chung-Lin, Tu Ru-Yi, Lo Yun-Ting, Chiu Pao Chin, Niu Dau-Ming, Fang Yi-Ya, Chen Tzu-Lin, Tsai Fuu-Jen, Hwu Wuh-Liang, Lin Shio Jean, Chang Tung-Ming, Lin Shuan-P |
Utilizing ExAC to assess the hidden contribution of variants of unknown significance to Sanfilippo Type B incidence. PloS one 2018 13 (7): e0200008. Clark Wyatt T, Yu G Karen, Aoyagi-Scharber Mika, LeBowitz Jonathan |
Novel splice site IDUA gene mutation in Tunisian pedigrees with hurler syndrome. Diagnostic pathology 2018 5 13 (1): 35. Chkioua Latifa, Boudabous Hela, Jaballi Ibtissem, Grissa Oussama, Turkia Hadhami Ben, Tebib Neji, Laradi Sandri |
Worldwide distribution of common IDUA pathogenic variants. Clinical genetics 2018 2 94 (1): 95-102. Poletto E, Pasqualim G, Giugliani R, Matte U, Baldo |
A novel mutation of SGSH and clinical features analysis of mucopolysaccharidosis type IIIA. Medicine 2018 12 97 (52): e13758. Li Xiaohua, Xiao Rui, Chen Baiyu, Yang Guanglu, Zhang Xiaomeng, Fu Zhuo, Fu Junxian, Zhuang Mengli, Huang Yinglo |
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 Analysis of the IDUA Gene in Iranian Patients with Mucopolysaccharidosis Type 1: Identification of Four Novel Mutations. Genetic testing and molecular biomarkers 2019 7 23 (8): 515-522. Kamranjam Mana, Alaei Mohammadre |
Genotype-phenotype relationships in mucopolysaccharidosis type I (MPS I): Insights from the International MPS I Registry. Clinical genetics 2019 6 96 (4): 281-289. Clarke Lorne A, Giugliani Roberto, Guffon Nathalie, Jones Simon A, Keenan Hillary A, Munoz-Rojas Maria V, Okuyama Torayuki, Viskochil David, Whitley Chester B, Wijburg Frits A, Muenzer Jose |
Identification of eleven different mutations including six novel, in the arylsulfatase B gene in Iranian patients with mucopolysaccharidosis type VI. Molecular biology reports 2019 4 46 (3): 3417-3426. Jafaryazdi Rokhsareh, Shams Sedigheh, Isaian Anna, Setoodeh Aria, Teimourian Shahr |
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 |
A genetic and clinical study of individuals with nonsyndromic retinopathy consequent upon sequence variants in HGSNAT, the gene associated with Sanfilippo C mucopolysaccharidosis. American journal of medical genetics. Part C, Seminars in medical genetics 2020 8 184 (3): 631-643. Schiff Elena R, Daich Varela Malena, Robson Anthony G, Pierpoint Karen, Ba-Abbad Rola, Nutan Savita, Zein Wadih M, Ullah Ehsan, Huryn Laryssa A, Tuupanen Sari, Mahroo Omar A, Michaelides Michel, Burke Derek, Harvey Katie, Arno Gavin, Hufnagel Robert B, Webster Andrew |
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 |
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 |
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 |
Molecular Analysis of Vietnamese Patients with Mucopolysaccharidosis Type I. Life (Basel, Switzerland) 2021 11 11 (11): . Can Ngoc Thi Bich, Tran Dien Minh, Bui Thao Phuong, Nguyen Khanh Ngoc, Nguyen Hoang Huy, Nguyen Tung Van, Hwu Wuh-Liang, Tomatsu Shunji, Vu Dung C |
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 |
A case report of Sanfilippo syndrome - the long way to diagnosis. BMC neurology 2022 3 22 (1): 93. Lorenz Delia, Musacchio Thomas, Kunstmann Erdmute, Grauer Eva, Pluta Natalie, Stock Annika, Speer Christian P, Hebestreit Hel |
Epidemiology and Genetics of Mucopolysaccharidosis Type VI in Russia. Frontiers in molecular biosciences 2022 2 8 780184. Voskoboeva Elena, Semyachkina Alla, Miklyaev Ochir, Gamzatova Amina, Mikhaylova Svetlana, Vashakmadze Nato, Baydakova Galina, Omzar Olga, Pichkur Natalia, Zakharova Ekaterina, Kutsev Serg |
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 |
In silico analysis of potential off-target sites to gene editing for Mucopolysaccharidosis type I using the CRISPR/Cas9 system: Implications for population-specific treatments. PloS one 2022 1 17 (1): e0262299. Carneiro Paola, de Freitas Martiela Vaz, Matte Ursu |
Mucopolysaccharidosis type IIIC in chinese mainland: clinical and molecular characteristics of ten patients and report of six novel variants in the HGSNAT gene. Metabolic brain disease 2023 4 . Liang Yingjun, Gao Xiaolan, Lu Deyun, Zhang Huiwen, Zhan |
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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