Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Amy Wakumoto"'
Autor:
Agnes Chen, Steven Q. Le, Igor Nestrasil, Alexander M. Kaizer, Alena Svátková, Haoyue Zhang, Jacqueline Madden, Paul Harmatz, Sarah P. Young, Patricia I. Dickson, Lynda E. Polgreen, Kelly King, Kyle Rudser, Julie B. Eisengart, Amy Wakumoto
Publikováno v:
Mol Genet Metab
Molecular genetics and metabolism, vol 129, iss 2
Molecular genetics and metabolism, vol 129, iss 2
Central nervous system manifestations of mucopolysaccharidosis type I (MPS I) such as cognitive impairment, hydrocephalus, and spinal cord compression are inadequately treated by intravenously-administered enzyme replacement therapy with laronidase (
Autor:
Elsa Shapiro, Elizabeth A. Maher, Patricia I. Dickson, Alena Svátková, Edward Stehel, Alia Ahmed, Agnes Chen, Amy Wakumoto, Sarah S. McNeil, Curtis Gravance, Igor Nestrasil
Publikováno v:
American Journal of Medical Genetics. Part a
Mucopolysaccharidosis type I (MPS I) is an inherited lysosomal storage disease that seriously affects the brain. Severity of neurocognitive symptoms in attenuated MPS subtype (MPS IA) broadly varies partially, due to restricted permeability of blood
Autor:
Amy Wakumoto, Ravishankar Chityala, Khalaf Bushara, Alena Svátková, Petr Bednařík, Bryon A. Mueller, Paul J. Tuite, Igor Nestrasil, Xiang Wu, Kyle Rudser
Publikováno v:
Brain and Behavior
Background: An evolving pathophysiological concept of essential tremor (ET) points to diffuse brain network involvement, which emphasizes the need to investigate white matter (WM) changes associated with motor symptoms of ET. Objectives: To investiga
Autor:
A. Barbier, Alia Ahmed, Victor Kovac, Chester B. Whitley, Kyle R. Rudser, Amy Wakumoto, Brianna Yund, Elsa Shapiro, Kathleen R. Delaney, P. Haslett, Igor Nestrasil
Publikováno v:
European Journal of Paediatric Neurology. 19:S15-S16
Objective MPS IIIA is a progressive neurological disease. Quantitative MRI and neurocognitive function testing may provide understanding of MPS IIIA disease progression. From the natural history of MPS IIIA (NCT01047306), we previously reported that
Autor:
Amy Wakumoto, Maureen Cleary, Patrick A. J. Haslett, Elsa Shapiro, Chester B. Whitley, Igor Nestrasil, Eugen Mengel, Kyle Rudser, Paul Harmatz, Alia Ahmed, Kathleen R. Delaney
Publikováno v:
Molecular Genetics and Metabolism. 117:S86
Autor:
Alena Svátková, Amy Wakumoto, Raphael Schiffmann, Caren Swift, Igor Nestrasil, Marivelisse Rodriguez-Rivera, Joan W. Mayfield
Publikováno v:
Molecular Genetics and Metabolism. 117:S103
Autor:
Robin Rumsey, Elsa Shapiro, Kyle Rudser, Igor Nestrasil, Victor Kovac, Chester B. Whitley, Alia Ahmed, Michael Potegal, Amy Wakumoto
Publikováno v:
Molecular Genetics and Metabolism. 114:S123