Results 151 to 160 of about 5,048,722 (239)

Unmet needs of adults living with mucopolysaccharidosis II: data from the Hunter Outcome Survey. [PDF]

Orphanet J Rare Dis
Muenzer J, Amartino H, Giugliani R, Harmatz P, Lin SP, Link B, Molter D, Ramaswami U, Scarpa M, Botha J, Audi J, Burton BK.   +11 more
europepmc   +1 more source

Toileting Abilities Survey as a surrogate outcome measure for cognitive function: Findings from neuronopathic mucopolysaccharidosis II patients treated with idursulfase and intrathecal idursulfase. [PDF]

Mol Genet Metab Rep, 2020
Hogan MJ, Stephens K, Smith E, Jalazo ER, Hendriksz CJ, Edwards LJ, Bjoraker KJ.   +6 more
europepmc   +1 more source

Clinical investigator perspectives on patient outcomes in children with neuronopathic mucopolysaccharidosis II during intrathecal idursulfase-IT treatment. [PDF]

Orphanet J Rare Dis
Yee KS, Alexanderian D, Martin S, Olayinka-Amao B, Whiteman DAH.   +4 more
europepmc   +1 more source

A review of gene therapy in canine and feline models of lysosomal storage disorders [PDF]

, 2015
Bradbury, Allison M, Casal, Margret L, Gurda, Brittney L, Haskins, Mark E, Ponder, Katherine P, Vite, Charles H   +5 more
core   +2 more sources

Characterization of human recombinant N-acetylgalactosamine-6-sulfate sulfatase produced in Pichia pastoris as potential enzyme for Mucopolysaccharidosis IVA treatment [PDF]

, 2019
Alméciga-Díaz, Carlos J, Callewaert, Nico, Espejo-Mojica, Angela J, Pimentel-Vera, Luisa N, Rodríguez-López, Alexander, Tiels, Petra, Tomatsu, Shunji, Van Hecke, Annelies   +7 more
core   +1 more source

Caregiver experiences and observations of intrathecal idursulfase-IT treatment in a phase 2/3 trial in pediatric patients with neuronopathic mucopolysaccharidosis II. [PDF]

Orphanet J Rare Dis
Yee KS, Lewis S, Evans E, Romano C, Alexanderian D.   +4 more
europepmc   +1 more source

Genotype–phenotype relationship in mucopolysaccharidosis II: predictive power of IDS variants for the neuronopathic phenotype

Developmental Medicine & Child Neurology, 2017
Audrey A M Vollebregt, M. Hoogeveen‐Westerveld, M. Kroos, E. Oussoren, I. Plug, George J Ruijter, A. T. van der Ploeg, W. Pijnappel   +7 more
semanticscholar   +1 more source

Home treatment in paediatric patients with Hunter syndrome: the first Italian experience [PDF]

, 2013

core   +1 more source

A longitudinal study of neurocognition and behavior in patients with Hurler-Scheie syndrome heterozygous for the L238Q mutation [PDF]

, 2019
Ahmed, Alia, Chen, Agnes, Dickson, Patricia, Eisengart, Julie B, King, Kelly, Ou, Li, Rudser, Kyle, Shapiro, Elsa, Whitley, Chester B   +8 more
core   +1 more source

Carpal Tunnel Syndrome in the Setting of Mucopolysaccharidosis II (Hunter Syndrome). [PDF]

Plast Reconstr Surg Glob Open, 2017
Argenta AE, Davit A.
europepmc   +1 more source