Results 141 to 150 of about 1,596 (158)

Cochlear implantation in a patient with mucopolysaccharidosis type IVA

Molecular Genetics and Metabolism, 2020
Shunji Tomatsu, Kyoko Nagao, Cassidy Walter, William J. Parkes, Michael Teixido, Mary C. Theroux, Stacy Szymkowski, Thierry Morlet   +7 more
openaire   +1 more source

Investigation of GALNS variants and genotype–phenotype correlations in a large cohort of patients with mucopolysaccharidosis type IVA

Journal of Inherited Metabolic Disease, 2022
Mengni Yi, Xiaolan Gao, Lianshu Han
exaly  

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
Harry Pachajoa, CARLOS J Almeciga-Díaz, CARLOS E Prada   +2 more
exaly  

Airway Management of the Deformed Trachea Using T-Tube Stents in Patients with Mucopolysaccharidosis Type IVA

Annals of Otology, Rhinology and Laryngology, 2022
Yi-Hao Lee, Li-Chun Hsieh, Chin-Hui Su   +2 more
exaly  

A review of the clinical presentation and diagnosis of Mucopolysaccharidosis IVA

Molecular Genetics and Metabolism, 2013
Shunji Tomatsu, Chris Hendriksz, Paul Harmatz, Michael Beck, Jones Simon, Tim Wood, Ralph Lachman, Tadao Orii   +7 more
openaire   +1 more source

In vitro effect of genistein on DNA damage in leukocytes from mucopolysaccharidosis IVA patients

Molecular Genetics and Metabolism, 2014
Solange Cristina Garcia
exaly  

Enzyme Replacement Therapy with Elosulfase alfa for Mucopolysaccharidosis IVA (Morquio A Syndrome): Milestones and Challenges

Expert Opinion on Orphan Drugs, 2017
Yana Puckett, Holly Mulinder, Adriana M Montano   +2 more
exaly  

Elosulfase alfa (BMN 110) for the treatment of mucopolysaccharidosis IVA (Morquio A Syndrome)

Expert Review of Clinical Pharmacology, 2016
Christian J Hendriksz
exaly  

Mucopolysaccharidosis IVA: Correlation between genotype, phenotype and keratan sulfate levels

Molecular Genetics and Metabolism, 2013
Vu Chi Dung, Shunji Tomatsu, Adriana M Montano   +2 more
exaly  

Molecular heterogeneity in mucopolysaccharidosis IVA in Australia and Northern Ireland: Nine novel mutations including T312S, a common allele that confers a mild phenotype

Human Mutation, 1998
Naoto Yamada, Seiji Fukuda, Shunji Tomatsu   +2 more
exaly