Zobrazeno 1 - 10
of 50
pro vyhledávání: '"Edward H. Bossen"'
Autor:
Mari Mori, Jennifer Goldstein, Sarah P. Young, Edward H. Bossen, John Shoffner, Dwight D. Koeberl
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 4, Iss C, Pp 39-41 (2015)
Complex III deficiency due to a MT-CYB mutation has been reported in patients with myopathy. Here, we describe a 15-year-old boy who presented with metabolic acidosis, ketotic hypoglycemia and carnitine deficiency. Electron transport chain analysis a
Externí odkaz:
https://doaj.org/article/9eb665720dd54638bbbe8baae626be02
Autor:
Anne F Buckley, Ankit K Desai, Christine I Ha, Maureen A Petersen, Januario C Estrada, Justin R Waterfield, Edward H Bossen, Priya S Kishnani
Publikováno v:
Journal of Neuropathology & Experimental Neurology. 82:345-362
The survival of infantile-onset Pompe disease (IOPD) patients has improved dramatically since the introduction of enzyme replacement therapy (ERT) with a1glucosidase alfa. However, long-term IOPD survivors on ERT demonstrate motor deficits indicating
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1dd99b70e4429864566461c7175fb37e
https://doi.org/10.1093/jnen/nlad012
https://doi.org/10.1093/jnen/nlad012
Autor:
Edward C. Smith, Sam Hopkins, Laura E. Case, Ming Xu, Crista Walters, Stephanie Dearmey, Sang-oh Han, Tracy G. Spears, Jessica A. Chichester, Edward H. Bossen, Christoph P. Hornik, Jennifer L. Cohen, Deeksha Bali, Priya S. Kishnani, Dwight D. Koeberl
Publikováno v:
Molecular Therapy.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ade7b2b9b5e1c9dfb4eab648fd879c08
https://doi.org/10.1016/j.ymthe.2023.02.014
https://doi.org/10.1016/j.ymthe.2023.02.014
Autor:
Anne F. Buckley, Edward H. Bossen
Publikováno v:
Journal of Neuropathology & Experimental Neurology. 72:906-918
Blood vessels are often overlooked in analyses of skeletal muscle biopsies. However, there are many vascular features in skeletal muscle biopsies that, when interpreted in the context of other histologic patterns and clinical history, provide useful
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9e4010df9343d6cac02bd5410114002c
https://doi.org/10.1097/nen.0b013e3182a7f0b8
https://doi.org/10.1097/nen.0b013e3182a7f0b8
Autor:
Christine I. Ha, Priya S. Kishnani, Anne F. Buckley, Zoheb B. Kazi, Justin Waterfield, Stephanie Austin, Edward H. Bossen, Ankit K. Desai
Publikováno v:
Molecular Genetics and Metabolism. 120:S60-S61
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c8fc5ef97bf2b83f1b6255eb1ddd2e05
https://doi.org/10.1016/j.ymgme.2016.11.136
https://doi.org/10.1016/j.ymgme.2016.11.136
Autor:
Beth L. Thurberg, Anne Chun Hui Tsai, Kendra Afonso, Edward H. Bossen, Charles Vaccaro, Michael O'Callaghan, Priya S. Kishnani, Colleen Maloney
Publikováno v:
Laboratory Investigation. 86:1208-1220
In Pompe disease, a genetic deficiency of lysosomal acid alpha-glucosidase, glycogen accumulates abnormally in the lysosomes of skeletal, cardiac and smooth muscle, and contributes to clinically progressive and debilitating muscle weakness. The prese
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3941adc992adad8cd268aa331342fc54
https://doi.org/10.1038/labinvest.3700484
https://doi.org/10.1038/labinvest.3700484
Publikováno v:
Skeletal Radiology. 34:19-28
To evaluate the magnetic resonance (MR) features of intramuscular myxoma (IM) compared with its pathological findings.Two radiologists retrospectively reviewed records and imaging studies of patients with histologically proven IM. Two radiologists al
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1cd6077d220489e291298e91f9bbcfac
https://doi.org/10.1007/s00256-004-0848-9
https://doi.org/10.1007/s00256-004-0848-9
Autor:
Silvère M. Van Der Maarel, Evadnie Rampersaud, George W. Padberg, Margaret A. Pericak-Vance, Allan H. Friedman, Rabi Tawil, Edward H. Bossen, Marcy C. Speer, John R. Gilbert, Jeffrey M. Stajich, Richard W. Tim, Kristi D. Viles, Rune R. Frants
Publikováno v:
Journal of Clinical Neuromuscular Disease. 3:1-7
Objectives To characterize clinically and molecularly a large, non-chromosome 4-linked facioscapulohumeral muscular dystrophy (FSHMD) family. Methods Neurological evaluations of affected (N = 55) and at-risk (N = 48) individuals were performed along
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f312ae2492a3132a1f75743ad4c6a107
https://doi.org/10.1097/00131402-200109000-00001
https://doi.org/10.1097/00131402-200109000-00001
Autor:
Andrea Amalfitano, A. Resai Bengur, Richard P. Morse, Joseph M. Majure, Laura E. Case, Deborah L. Veerling, Joanne Mackey, Priya Kishnani, Wendy Smith, Alison McVie-Wylie, Jennifer A. Sullivan, George E. Hoganson, John A. Phillips, G. Bradley Schaefer, Joel Charrow, Russell E. Ware, Edward H. Bossen, Yuan-Tsong Chen
Publikováno v:
Genetics in Medicine. 3:132-138
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::da75704aad753e9c80fa1acf0bfcd6b5
https://doi.org/10.1097/00125817-200103000-00008
https://doi.org/10.1097/00125817-200103000-00008
Autor:
Yuan-Tsong Chen, A.Resai Bengur, John Phillips, Russell E. Ware, Andrea Amalfitano, Joanne Mackey, Joseph M. Majure, Richard P. Morse, Wendy A. Smith, Edward H. Bossen, Priya S. Kishnani, Jennifer A. Sullivan, George E. Hoganson, Alison McVie-Wylie, G. Bradley Schaefer, Deborah L. Veerling, Joel Charrow, Laura E. Case
Publikováno v:
Genetics in Medicine. 3:132-138
Purpose: Infantile glycogen storage disease type II (GSD-II) is a fatal genetic muscle disorder caused by deficiency of acid α-glucosidase (GAA). The purpose of this study was to investigate the safety and efficacy of recombinant human GAA (rhGAA) e
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2857045ca45374a3946b9544e1c6eb1e
https://doi.org/10.1038/gim200127
https://doi.org/10.1038/gim200127