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Clinical Therapeutics|October 22, 2009
Effect of agalsidase alfa replacement therapy on Fabry disease-related hypertrophic cardiomyopathy: a 12- to 36-month, retrospective, blinded echocardiographic pooled analysisChristoph Kampmann, Ales Linhart, Richard B Devereux, et al.
Clinical Journal of the American Society of Nephrology : CJASN|December 8, 2009
Biomarkers of Fabry disease nephropathyRaphael Schiffmann, Stephen Waldek, Ariela Benigni, et al.
BMC Neurology|June 25, 2002
Enzyme replacement reverses abnormal cerebrovascular responses in Fabry diseaseDavid F Moore, Gheona Altarescu, Peter Herscovitch, et al.
Plos One|July 8, 2021
The drug development pipeline for glioblastoma-A cross sectional assessment of the FDA Orphan Drug Product designation databasePascal Johann, Dominic Lenz, Markus Ries
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.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 18, 2013
Changes in plasma and urine globotriaosylceramide levels do not predict Fabry disease progression over 1 year of agalsidase alfaRaphael Schiffmann, Markus Ries, Derek Blankenship, et al.
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