Human Genome Epidemiology Literature Finder
Rare Diseases
Records 1 - 4 (of 4 Records) |
Query Trace: Hurler Syndrome[original query] |
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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 |
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 |
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 |
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- Page last updated:May 13, 2024
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