Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Raphael Schiffmann"'
Autor:
David J. Lockhart, Ana Jovanovic, Toya Ohashi, Elfrida R. Benjamin, Norio Sakai, Raphael Schiffmann, David M. Koeller, Gere Sunder-Plassmann, Dominique P. Germain, Jeffrey P. Castelli, Elizabeth Ludington, Charles Marques Lourenço, Kathleen Nicholls, Mark Thomas, Ozlem Goker-Alpan, Robin H. Lachmann, David Dimmock, Ulla Feldt-Rasmussen, Jay A. Barth, Carrolee Barlow, François Eyskens, Patrick Deegan, Eric Hachulla, Nina Skuban, William R. Wilcox, Daniel G. Bichet, John Kirk, Iacopo Olivotto, Suma P. Shankar, Gerard Vockley, Takashi Hamazaki, Franklin K. Johnson, Derralynn Hughes, Pol Boudes, Christopher Viereck, Ichiei Narita, Khan Nedd, Julie Yu
Publikováno v:
Journal of medical genetics
Journal of medical genetics, vol 54, iss 4
Hughes, D A, Nicholls, K, Shankar, S P, Sunder-Plassmann, G, Koeller, D, Nedd, K, Vockley, G, Hamazaki, T, Lachmann, R, Ohashi, T, Olivotto, I, Sakai, N, Deegan, P, Dimmock, D, Eyskens, F, Germain, D P, Goker-Alpan, O, Hachulla, E, Jovanovic, A, Lourenco, C M, Narita, I, Thomas, M, Wilcox, W R, Bichet, D G, Schiffmann, R, Ludington, E, Viereck, C, Kirk, J, Yu, J, Johnson, F, Boudes, P, Benjamin, E R, Lockhart, D J, Barlow, C, Skuban, N, Castelli, J P, Barth, J & Feldt-Rasmussen, U 2017, ' Oral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease : 18-month results from the randomised phase III ATTRACT study ', Journal of Medical Genetics, vol. 54, no. 4, pp. 288-296 . https://doi.org/10.1136/jmedgenet-2016-104178
Journal of medical genetics, vol 54, iss 4
Hughes, D A, Nicholls, K, Shankar, S P, Sunder-Plassmann, G, Koeller, D, Nedd, K, Vockley, G, Hamazaki, T, Lachmann, R, Ohashi, T, Olivotto, I, Sakai, N, Deegan, P, Dimmock, D, Eyskens, F, Germain, D P, Goker-Alpan, O, Hachulla, E, Jovanovic, A, Lourenco, C M, Narita, I, Thomas, M, Wilcox, W R, Bichet, D G, Schiffmann, R, Ludington, E, Viereck, C, Kirk, J, Yu, J, Johnson, F, Boudes, P, Benjamin, E R, Lockhart, D J, Barlow, C, Skuban, N, Castelli, J P, Barth, J & Feldt-Rasmussen, U 2017, ' Oral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease : 18-month results from the randomised phase III ATTRACT study ', Journal of Medical Genetics, vol. 54, no. 4, pp. 288-296 . https://doi.org/10.1136/jmedgenet-2016-104178
Background Fabry disease is an X-linked lysosomal storage disorder caused by GLA mutations, resulting in α-galactosidase (α-Gal) deficiency and accumulation of lysosomal substrates. Migalastat, an oral pharmacological chaperone being developed as a
Autor:
Aideen M. McInerney-Leo, Ellen Sidransky, Raphael Schiffmann, Robert L. Nussbaum, Ozlem Goker-Alpan, Mary E. LaMarca
Publikováno v:
Journal of Medical Genetics. 41:937-940
An association between Gaucher disease and Parkinson disease has been demonstrated by the concurrence of Gaucher disease and parkinsonism in rare patients and the identification of glucocerebrosidase mutations in probands with sporadic Parkinson dise
Autor:
Ozlem Goker-Alpan, Eduard Orvisky, Barbara K. Stubblefield, Raphael Schiffmann, Priya S. Kishnani, Kathleen S. Hruska, Ellen Sidransky
Publikováno v:
Journal of medical genetics. 42(6)
Background: Gaucher disease is classified into neuronopathic and non-neuronopathic forms with wide phenotypic variation among patients sharing the same genotype. While homozygosity for the common L444P allele usually correlates with the neuronopathic