Margaret Timmons

Enzyme-Replacement Therapy With Agalsidase Alfa in Children With Fabry Disease

R. Schiffmann, B. Schlaggar, R. Brady, 2006, Pediatrics.

Weekly enzyme replacement therapy may slow decline of renal function in patients with Fabry disease who are on long-term biweekly dosing.

R. Schiffmann, R. Brady, W. Benko, 2007, Journal of the American Society of Nephrology : JASN.

Long-term therapy with agalsidase alfa for Fabry disease: safety and effects on renal function in a home infusion setting.

R. Schiffmann, R. Brady, J. Flaherty, 2006, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

Bi-allelic CSF1R Mutations Cause Skeletal Dysplasia of Dysosteosclerosis-Pyle Disease Spectrum and Degenerative Encephalopathy with Brain Malformation.

A. Singleton, K. Fischbeck, A. Vanderver, 2019, American journal of human genetics.

Randomized, controlled trial of miglustat in Gaucher's disease type 3

R. Schiffmann, C. Harris, E. FitzGibbon, 2008, Annals of neurology.

Decreased asialotransferrin in cerebrospinal fluid of patients with childhood-onset ataxia and central nervous system hypomyelination/vanishing white matter disease.

A. Vanderver, E. Hoffman, R. Schiffmann, 2005, Clinical chemistry.

Statin‐induced autoimmune necrotizing myositis—A single‐center case series highlighting this potentially life‐threatening but treatable condition

U. Pohl, F. Manfredonia, N. Barkham, 2020, Clinical case reports.

Randomized, controlled trial of miglustat in Gaucher's disease type 3

R. Schiffmann, C. Harris, E. FitzGibbon, 2008, Annals of neurology.