E-LIB Suche - Ergebnisse für: Lawrence, Charnas

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14. A natural history study of hexosaminidase deficiency:

Bjoraker, Kendra J. ; Whitley, Chester B. ; Lawrence, Charnas
Molecular Genetics and Metabolism. 96 (2009) 2 - p. S15 , 2009

Link: https://doi.org/10.1016/..

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89. Neuropsychological function and neuroimaging in severe ..:

Shapiro, Elsa ; Thomas, Kathleen ; Delaney, Kathleen...
Molecular Genetics and Metabolism. 93 (2008) 2 - p. 37 , 2008

Link: https://doi.org/10.1016/..

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The PAX LC Trial: A Decentralized, Phase 2, Randomized, Dou..:

Krumholz, Harlan M. ; Sawano, Mitsuaki ; Bhattacharjee, Bornali...
The American Journal of Medicine. , 2024

Link: https://doi.org/10.1016/..

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Dual-energy X-ray absorptiometry measures of lean body mass..:

Sherlock, Sarah P. ; Palmer, Jeffrey ; Wagner, Kathryn R....
Scientific Reports. 12 (2022) 1 - p. , 2022

Link: https://doi.org/10.1038/..

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Novel approaches to analysis of the North Star Ambulatory A..:

Muntoni, Francesco ; Guglieri, Michela ; Mah, Jean K....
PLOS ONE. 17 (2022) 8 - p. e0272858 , 2022

Link: https://doi.org/10.1371/..

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Quantitative magnetic resonance imaging measures as biomark..:

Sherlock, Sarah P. ; Palmer, Jeffrey ; Wagner, Kathryn R....
Journal of Neurology. 269 (2022) 8 - p. 4421-4435 , 2022

Link: https://doi.org/10.1007/..

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Safety and Disease Monitoring Biomarkers in Duchenne Muscul..:

Wagner, Kathryn R ; Guglieri, Michaela ; Ramaiah, Shashi K...
Biomarkers in Medicine. 15 (2021) 15 - p. 1389-1396 , 2021

Link: https://doi.org/10.2217/..

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Current state of cardiac troponin testing in Duchenne muscu..:

Spurney, Christopher F ; Ascheim, Deborah ; Charnas, Lawrence...
Open Heart. 8 (2021) 1 - p. e001592 , 2021

Link: https://doi.org/10.1136/..

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Corrigendum to "Randomized phase 2 trial and open-label ext..:

Wagner, Kathryn R. ; Abdel-Hamid, Hoda Z. ; Mah, Jean K....
Neuromuscular Disorders. 31 (2021) 2 - p. 167-168 , 2021

Link: https://doi.org/10.1016/..

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Randomized phase 2 trial and open-label extension of domagr..:

Wagner, Kathryn R. ; Abdel-Hamid, Hoda Z. ; Mah, Jean K....
Neuromuscular Disorders. 30 (2020) 6 - p. 492-502 , 2020

Link: https://doi.org/10.1016/..

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How a patient advocacy group developed the first proposed d..:

Furlong, Pat ; Bridges, John F. P. ; Charnas, Lawrence...
Orphanet Journal of Rare Diseases. 10 (2015) 1 - p. , 2015

Link: https://doi.org/10.1186/..

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X-linked adrenoleukodystrophy: ABCD1 de novo mutations and ..:

Wang, Ying ; Busin, Rachel ; Reeves, Catherine...
Molecular Genetics and Metabolism. 104 (2011) 1-2 - p. 160-166 , 2011

Link: https://doi.org/10.1016/..

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Enzyme replacement therapy corrects Lysosomal Acid Lipase D..:

Grabowski, Gregory ; Du, Hong ; Pescatore, Brian...
Molecular Genetics and Metabolism. 102 (2011) 2 - p. S19 , 2011

Link: https://doi.org/10.1016/..

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26. A re-analysis of disease stage progression in Krabbe di..:

Charnas, Lawrence ; Nair, Nitin ; Mensah, Robert
Molecular Genetics and Metabolism. 99 (2010) 2 - p. S13 , 2010

Link: https://doi.org/10.1016/..

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98. Chitotriosidase as a biomarker of cerebral adrenoleukod..:

Orchard, Paul J. ; Basso, Lisa ; Kivisto, Teresa...
Molecular Genetics and Metabolism. 99 (2010) 2 - p. S28 , 2010

Link: https://doi.org/10.1016/..