Results 161 to 170 of about 1,760 (179)

Patient reported outcomes in MPS IVA patients receiving enzyme replacement therapy

Molecular Genetics and Metabolism, 2019
Jacqueline Adam, Alexandra Morrison, Samantha Wiseman   +2 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  

Creation and characterization of a large animal model of MPS IVA

Molecular Genetics and Metabolism
Elizabeth Braunlin, Derek M. Korpela, James M. Berry, Lalitha Belur, Jordan K. Roberts, Rebecca Manley, Davis Seelig, Michael Evans, Kerry Goldin, Chester B. Whitley, Bradley Miller, Adriana Montano, Jarryd M. Campbell, R. Scott McIvor   +13 more
openaire   +1 more source

55. A case report of Morquio syndrome (MPS IVA) with Morgagni diaphragmatic hernia

Molecular Genetics and Metabolism, 2010
Susan Hale, Klane White, Walter Krengel, Randolph Otto, Penny Schubert, Sihoun Hahn, John Meehan,   +6 more
openaire   +1 more source

“Little people, big world”: Morquio syndrome type A (MPS IVA) in adult life

Molecular Genetics and Metabolism, 2020
Tatiane C. Roncato, Bruno P. Coghi, Bruna I.B. Silva, Bruna S. Pastre, Laura Vagnini, Beatriz B. Nicoletti, Zumira A. Carneiro, Charles M. Lourenco   +7 more
openaire   +1 more source

Murine model (Galnstm(C76S)slu) of MPS IVA with missense mutation at the active site cysteine conserved among sulfatase proteins

Molecular Genetics and Metabolism, 2007
Shunji Tomatsu, Carole Vogler, Adriana M Montano   +2 more
exaly  

Early efficacy of vosoritide for the treatment of growth deficits in MPS IVA and VI

Molecular Genetics and Metabolism
Ellen B. Fung, Eden Gibson, Leslie Lynch, Jacqueline Madden, Bamidele F. Kammen, Irene Chang, Paul Harmatz   +6 more
openaire   +1 more source

Mucopolysaccharidosis IVA (Morquio A): Identification of novel common mutations in the N-acetylgalactosamine-6-sulfate sulfatase (GALNS) gene in Italian patients

Human Mutation, 2004
Shunji Tomatsu, Mirella Filocamo, Mónica A Gutierrez   +2 more
exaly  

Insights from the Czech MPS IVA patient cohort, effect of therapy

Molecular Genetics and Metabolism
Robert Saho, Martin Magner
openaire   +1 more source

Intellectual and neurological functioning in Morquio syndrome (MPS IVa)

Journal of Inherited Metabolic Disease, 2013
Andrew C Peet, Christian J Hendriksz
exaly