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Margaret Timmons · SciRah

Researcher profile · Semantic Scholar

Margaret Timmons

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Margaret Timmons — researcher profile on SciRah

h-index: 7
Works: 10
Citations: 926

Most-cited papers

Long-term therapy with agalsidase alfa for Fabry disease: safety and effects on renal function in a home infusion setting.
R. Schiffmann, M. Ries, Margaret Timmons, J. T. Flaherty +1 more
2006Nephrology, Dialysis and Transplantation271 citations
Semantic Scholar
Randomized, Controlled Trial of Miglustat in Gaucher’s Disease Type 3
R. Schiffmann, E. FitzGibbon, Chris M. Harris, C. Devile +7 more
2008Annals of Neurology219 citations Open access
Semantic Scholar
Weekly enzyme replacement therapy may slow decline of renal function in patients with Fabry disease who are on long-term biweekly dosing.
R. Schiffmann, H. Askari, Margaret Timmons, C. Robinson +3 more
2007Journal of the American Society of Nephrology128 citations Open access
Semantic Scholar
Bi-allelic CSF1R Mutations Cause Skeletal Dysplasia of Dysosteosclerosis-Pyle Disease Spectrum and Degenerative Encephalopathy with Brain Malformation.
Long Guo, D. Bertola, A. Takanohashi, Asuka Saito +34 more
2019American Journal of Human Genetics122 citations Open access
Semantic Scholar
Enzyme-Replacement Therapy With Agalsidase Alfa in Children With Fabry Disease
M. Ries, J. Clarke, C. Whybra, Margaret Timmons +8 more
2006Pediatrics110 citations
Semantic Scholar
Decreased asialotransferrin in cerebrospinal fluid of patients with childhood-onset ataxia and central nervous system hypomyelination/vanishing white matter disease.
A. Vanderver, R. Schiffmann, Margaret Timmons, K. Kellersberger +4 more
2005Clinical Chemistry47 citations Open access
Semantic Scholar
Sensitivity and specificity of decreased CSF asialotransferrin for eIF2B-related disorder
A. Vanderver, Y. Hathout, J. Maletkovic, Erynn Gordon +8 more
2008Neurology22 citations Open access
Semantic Scholar
Statin‐induced autoimmune necrotizing myositis—A single‐center case series highlighting this potentially life‐threatening but treatable condition
Muhamad Jasim, Hem Sapkota, Margaret Timmons, F. Manfredonia +2 more
2020Clinical Case Reports7 citations Open access
Semantic Scholar
10. Warning: statin-induced autoimmune necrotising myositis
Muhamad Jasim, Jafar Ibrahim, W. Scotton, F. Manfredonia +3 more
2019Rheumatology Advances in Practice1 citations Open access
Semantic Scholar
WITHDRAWN: Familial Degenerative Encephalopathy with Intracranial Calcification and Metaphyseal Dysplasia.
Margaret Timmons, J. Garbern, P. Robey, A. Singleton +8 more
2008Journal of Bone and Mineral Research0 citations
Semantic Scholar

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