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Journal of Pediatric Rehabilitation Medicine|October 9, 2023
Physical activity and functional limitations in pediatric multiple sclerosis: Are fatigue and depression confounding variables?E Morghen Sikes, Marcia Finlayson, Brenda Banwell, et al.
Neurobiology of Disease|January 15, 2005
Enhanced calcium release in the acute neuronopathic form of Gaucher diseaseDori Pelled, Selena Trajkovic-Bodennec, Emyr Lloyd-Evans, et al.
Molecular Genetics and Metabolism|December 6, 2016
Gaucher disease: Progress and ongoing challengesPramod K Mistry, Grisel Lopez, Raphael Schiffmann, et al.
Plos One|September 7, 2012
CSF N-glycan profiles to investigate biomarkers in brain developmental disorders: application to leukodystrophies related to eIF2B mutationsAnne Fogli, Christine Merle, Véronique Roussel, et al.
Virchows Archiv : an International Journal of Pathology|November 30, 2005
Pathological findings in a patient with Fabry disease who died after 2.5 years of enzyme replacementRaphael Schiffmann, Amy Rapkiewicz, Mones Abu-Asab, et al.
Plos One|July 30, 2011
The saccadic and neurological deficits in type 3 Gaucher diseaseWilliam Benko, Markus Ries, Edythe A Wiggs, et al.
Brain Research Bulletin|December 31, 2003
White matter lesions in Fabry disease occur in 'prior' selectively hypometabolic and hyperperfused brain regionsDavid F Moore, Gheona Altarescu, W Craig Barker, et al.
The Journal of Pediatrics|September 13, 2003
Phenotypic continuum in neuronopathic Gaucher disease: an intermediate phenotype between type 2 and type 3Ozlem Goker-Alpan, Raphael Schiffmann, Joseph K Park, et al.
Journal of the American Society of Nephrology : JASN|April 6, 2007
Weekly enzyme replacement therapy may slow decline of renal function in patients with Fabry disease who are on long-term biweekly dosingRaphael Schiffmann, Hasan Askari, Margaret Timmons, et al.
Nephron|March 30, 2025
Further Clinical and Biochemical Phenotype of GLA p.A143T: A Fabry Disease Newborn Screening ExperienceAllison M Paltzer, Allegra M Quadri, Carly Rasmussen, et al.
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