Skip directly to search Skip directly to A to Z list Skip directly to navigation Skip directly to page options Skip directly to site content

Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Rare Diseases

Last data update: Jan 25, 2025. (Total: 235671Documents)
   dataset        GWAS Only
Filtered By:

Previous    

Records 1 - 6 (of 6 Records)

Query Trace: Hurler[original query]
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
Variability in the ocular phenotype in mucopolysaccharidosis.
The British journal of ophthalmology 2018 8 103 (4): 504-510.
Sornalingam Krishanthy, Javed Ahmed, Aslam Tariq, Sergouniotis Panagiotis, Jones Simon, Ghosh Arunabha, Ashworth Ja
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
Lysosomal storage disorders: Novel and frequent pathogenic variants in a large cohort of Indian patients of Pompe, Fabry, Gaucher and Hurler disease.
Clinical biochemistry 2020 12 89 14-37.
Thomas Divya C, Sharma Sandeepika, Puri Ratna D, Verma I C, Verma Jyots
TOP