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Pharmacoeconomics|March 6, 2007
Enzyme replacement therapy in orphan and ultra-orphan diseases: the limitations of standard economic metrics as exemplified by Fabry-Anderson diseaseDavid F Moore, Markus Ries, Evelyn L Forget, et al.
Journal of the Neurological Sciences|March 17, 2007
The cerebral vasculopathy of Fabry diseaseDavid F Moore, Christine R Kaneski, Hasan Askari, et al.
Archives of Neurology|March 28, 2012
4H syndrome with late-onset growth hormone deficiency caused by POLR3A mutationsAna Potic, Bernard Brais, Karine Choquet, et al.
Ophthalmology|March 5, 2002
Noninvasive diagnosis and ophthalmic features of mucolipidosis type IVJanine A Smith, Chi-Chao Chan, Ehud Goldin, et al.
Molecular Therapy. Nucleic Acids|October 24, 2013
HIV Tat Domain Improves Cross-correction of Human Galactocerebrosidase in a Gene- and Flanking Sequence-dependent MannerXing-Li Meng, Yoshikatsu Eto, Raphael Schiffmann, et al.
AJNR. American Journal of Neuroradiology|June 19, 2003
Increased signal intensity in the pulvinar on T1-weighted images: a pathognomonic MR imaging sign of Fabry diseaseDavid F Moore, Frank Ye, Raphael Schiffmann, et al.
Journal of Inherited Metabolic Disease|April 23, 2015
A prospective 10-year study of individualized, intensified enzyme replacement therapy in advanced Fabry diseaseRaphael Schiffmann, Caren Swift, Xuan Wang, et al.
The Lancet. Neurology|September 22, 2007
Multiple sclerosis in children: clinical diagnosis, therapeutic strategies, and future directionsBrenda Banwell, Angelo Ghezzi, Amit Bar-Or, et al.
Multiple Sclerosis (Houndmills, Basingstoke, England)|December 7, 2014
Quantitative Measurement of tissue damage and recovery within new T2w lesions in pediatric- and adult-onset multiple sclerosisRezwan Ghassemi, Robert Brown, Brenda Banwell, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 21, 2007
The pharmacology of multiple regimens of agalsidase alfa enzyme replacement therapy for Fabry diseaseJoe T R Clarke, Michael L West, Jan Bultas, et al.
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