Zobrazeno 81 - 90
of 416
pro vyhledávání: '"Raphael Schiffmann"'
Autor:
Emory Ryan, Raphael Schiffmann, Emily Daykin, Grisel Lopez, Ellen Sidransky, Nicole Fleischer, Magy Abdelwahab
Publikováno v:
Molecular Genetics and Metabolism. 132:S32
Autor:
Joseph M. Devaney, Cas Simons, Brent L. Fogel, Guy Helman, Joanna Crawford, Miriam Bloom, Marjo S. van der Knaap, Vani Rajan, Shimul Chowdhury, David M. Miller, Tina Hambuch, Nathan McNeill, Amirah Khouzam, Ryan J. Taft, Amy Pizzino, Nicole I. Wolf, Geneviève Bernard, Sarah H. Evans, Erica Ramos, Kelin Ru, Raphael Schiffmann, Johanna L. Schmidt, Jennifer L. Murphy, Gregory J. Baillie, Sean M. Grimmond, Adeline Vanderver, Asako Takanohashi, Ljubica Caldovic
Publikováno v:
Annals of Neurology, 79(6), 1031-1037. John Wiley and Sons Inc.
Annals of neurology, 79(6), 1031-1037. John Wiley and Sons Inc.
Vanderver, A, Simons, C, Helman, G, Crawford, J, Wolf, N I, Bernard, G, Pizzino, A, Schmidt, J L, Takanohashi, A, Miller, D, Khouzam, A, Rajan, V, Ramos, E, Chowdhury, S, Hambuch, T, Ru, K, Baillie, G J, Grimmond, S M, Caldovic, L, Devaney, J, Bloom, M, Evans, S H, Murphy, J L P, McNeill, N, Fogel, B L, Schiffmann, R, van der Knaap, M S & Taft, R J 2016, ' Whole Exome Sequencing in Patients with White Matter Abnormalities ', Annals of Neurology, vol. 79, no. 6, pp. 1031-1037 . https://doi.org/10.1002/ana.24650
Annals of neurology, 79(6), 1031-1037. John Wiley and Sons Inc.
Vanderver, A, Simons, C, Helman, G, Crawford, J, Wolf, N I, Bernard, G, Pizzino, A, Schmidt, J L, Takanohashi, A, Miller, D, Khouzam, A, Rajan, V, Ramos, E, Chowdhury, S, Hambuch, T, Ru, K, Baillie, G J, Grimmond, S M, Caldovic, L, Devaney, J, Bloom, M, Evans, S H, Murphy, J L P, McNeill, N, Fogel, B L, Schiffmann, R, van der Knaap, M S & Taft, R J 2016, ' Whole Exome Sequencing in Patients with White Matter Abnormalities ', Annals of Neurology, vol. 79, no. 6, pp. 1031-1037 . https://doi.org/10.1002/ana.24650
Here we report whole exome sequencing (WES) on a cohort of 71 patients with persistently unresolved white matter abnormalities with a suspected diagnosis of leukodystrophy or genetic leukoencephalopathy. WES analyses were performed on trio, or greate
Autor:
Brian D. Lowes, Xingli Meng, Raphael Schiffmann, Teodoro Bottiglieri, Matthew R.G. Taylor, Erland Arning
Publikováno v:
Journal of Cardiovascular Medicine and Cardiology. :014-017
Background: Tetrahydrobiopterin (BH4) is a cofactor that plays a major role in cardiovascular health and disease. BH4 levels in the human heart have not been previously reported. Objective and Methods: Using a novel LC-MS/MS method we measured BH4 an
Autor:
Gjalt W. Huisman, Jinsong Shin, Hallows William Casey, Chinping Chng, Hicham Alaoui, Xiyun Zhang, Rachel C. Botham, Viduya Judy Victoria Antonio, Dellas Nikki, Raphael Schiffmann, Matt Miller, Kerryn McCluskie, Cynthia Yu Zhu, Antoinette Sero, Kristen J. Skvorak, Nicholas J. Agard
Publikováno v:
Molecular Genetics and Metabolism. 129:S69
Publikováno v:
Molecular Genetics and Metabolism. 129:S144
Autor:
Kathy Nicholls, Robert B. Colvin, Ahmad Tuffaha, Gustavo Maegawa, Pilar Giraldo, Simeon A. Boyadjiev, Mohamed G. Atta, Derlis E. Gonzalez, Alona Paz, Mali Szlaifer, Laura Barisoni, Ozlem Goker-Alpan, Myrl Holida, Raphael Schiffmann, Sari Alon, Einat Brill-Almon, Martha R. Charney, Derralynn Hughes, Charles Jennette, Bonita Rup, Raul Chertkoff
Publikováno v:
Journal of inherited metabolic disease. 42(3)
Journal of Inherited Metabolic Disease published by John Wiley & Sons Ltd on behalf of SSIEM Pegunigalsidase alfa, a novel PEGylated, covalently crosslinked form of α-galactosidase A developed as enzyme replacement therapy (ERT) for Fabry disease (F
Autor:
Fred Holdbrook, J. Charles Jennette, Jay A. Barth, Jeffrey P. Castelli, Robert B. Colvin, Kathleen Nicholls, Suma P. Shankar, Laura Barisoni, Daniel G. Bichet, Derralynn Hughes, Andrew E. Mulberg, Nina Skuban, Raphael Schiffmann, Ana Jovanovic, Ulla Feldt-Rasmussen, Roberto Giugliani
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-7 (2018)
Repositório Institucional da UFRGS
Universidade Federal do Rio Grande do Sul (UFRGS)
instacron:UFRGS
Schiffmann, R, Bichet, D G, Jovanovic, A, Hughes, D A, Giugliani, R, Feldt-Rasmussen, U, Shankar, S P, Barisoni, L, Colvin, R B, Jennette, J C, Holdbrook, F, Mulberg, A, Castelli, J P, Skuban, N, Barth, J A & Nicholls, K 2018, ' Migalastat improves diarrhea in patients with Fabry disease : clinical-biomarker correlations from the phase 3 FACETS trial ', Orphanet Journal of Rare Diseases, vol. 13, 68 . https://doi.org/10.1186/s13023-018-0813-7
Orphanet Journal of Rare Diseases
Orphanet journal of rare diseases, vol 13, iss 1
Repositório Institucional da UFRGS
Universidade Federal do Rio Grande do Sul (UFRGS)
instacron:UFRGS
Schiffmann, R, Bichet, D G, Jovanovic, A, Hughes, D A, Giugliani, R, Feldt-Rasmussen, U, Shankar, S P, Barisoni, L, Colvin, R B, Jennette, J C, Holdbrook, F, Mulberg, A, Castelli, J P, Skuban, N, Barth, J A & Nicholls, K 2018, ' Migalastat improves diarrhea in patients with Fabry disease : clinical-biomarker correlations from the phase 3 FACETS trial ', Orphanet Journal of Rare Diseases, vol. 13, 68 . https://doi.org/10.1186/s13023-018-0813-7
Orphanet Journal of Rare Diseases
Orphanet journal of rare diseases, vol 13, iss 1
BACKGROUND: Fabry disease is frequently characterized by gastrointestinal symptoms, including diarrhea. Migalastat is an orally-administered small molecule approved to treat the symptoms of Fabry disease in patients with amenable mutations.METHODS: W
Autor:
Raphael Schiffmann, Virginia Kimonis, Patrick Deegan, Myrl Holida, Amel Karaa, Bojan Vujkovac, Bruce A. Barshop, Raul Chertkoff, William J. Rhead, Jerry Vockley, David G. Warnock, Ozlem Goker-Alpan, Aleš Linhart, Robert J. Hopkin, Camilla Tøndel, Maria Judit Molnar, Nicola Longo, William R. Wilcox, Pilar Giraldo, Wallace Eric, Nedd Khan
Publikováno v:
Molecular Genetics and Metabolism. 126:S150-S151
Autor:
Jay A. Barth, Elfrida R. Benjamin, Xuan Wang, Caren Swift, Xiaoyang Wu, Raphael Schiffmann, Lawrence Sweetman, Jeffrey P. Castelli, Nathan McNeill
Publikováno v:
Genet Med
To test the hypothesis that undiagnosed patients with Fabry disease exist among patients affected by common heart disease. Globotriaosylceramide in random whole urine using tandem mass spectroscopy, α-galactosidase A activity in dried blood spots, a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::046b16f2353fb2ea13b665bfb9aac8d7
https://europepmc.org/articles/PMC9302444/
https://europepmc.org/articles/PMC9302444/
Autor:
Tatiana, Bremova-Ertl, Raphael, Schiffmann, Marc C, Patterson, Nadia, Belmatoug, Thierry, Billette de Villemeur, Stanislavs, Bardins, Claudia, Frenzel, Věra, Malinová, Silvia, Naumann, Juliane, Arndt, Eugen, Mengel, Jörg, Reinke, Ralf, Strobl, Michael, Strupp
Publikováno v:
Frontiers in Neurology
Objectives To evaluate the function of the oculomotor and vestibular systems and to correlate these findings with the clinical status of patients with Gaucher disease type 3 (GD3). The goal of this cross-sectional and longitudinal study was to find o