Zobrazeno 1 - 10
of 156
pro vyhledávání: '"Raphael Schiffmann"'
Autor:
Ellen Sidransky, Nicole Fleischer, Raphael Schiffmann, Magy Abdelwahab, Emory Ryan, Nehal Hassib, Emily Daykin
Publikováno v:
Molecular Genetics and Metabolism. 134:274-280
Gaucher disease (GD) is a rare lysosomal storage disorder that is divided into three subtypes based on presentation of neurological manifestations. Distinguishing between the types has important implications for treatment and counseling. Yet, patient
Autor:
Anadina Garcia, Anthony Perry, Yi Lun, Lukas Martin, Leo B. Dungan, Jin-Song Shen, Yi Shuan Wu, Virginia D. Schmith, Franklin K. Johnson, Raphael Schiffmann, Richie Khanna, Rick Hamler, Anibh M. Das, Pai-Chi Tsai
Publikováno v:
Clinical Pharmacology in Drug Development
Approved therapies for Fabry disease (FD) include migalastat, an oral pharmacological chaperone, and agalsidase beta and agalsidase alfa, 2 forms of enzyme replacement therapy. Broad tissue distribution may be beneficial for clinical efficacy in FD,
Autor:
Mouna Taroua, Christiane Auray-Blais, Siamak Jabbarzadeh-Tabrizi, Raphael Schiffmann, Jin-Song Shen, Taniqua S. Day, Michel Boutin
Publikováno v:
Journal of Lipid Research, Vol 61, Iss 11, Pp 1410-1423 (2020)
J Lipid Res
J Lipid Res
Fabry disease is caused by deficient activity of α-galactosidase A, an enzyme that hydrolyzes the terminal α-galactosyl moieties from glycolipids and glycoproteins, and subsequent accumulation of glycosphingolipids, mainly globotriaosylceramide (Gb
Autor:
Ellen Sidransky, Barbara K. Stubblefield, Nahid Tayebi, Raphael Schiffmann, Chelsie N. Poffenberger, Emory Ryan, Grisel Lopez, Sara K. Inati
Publikováno v:
Mol Genet Metab
The clinical phenotype of Gaucher disease type 3 (GD3), a neuronopathic lysosomal storage disorder, encompasses a wide array of neurological manifestations including neuro-ophthalmological findings, developmental delay, and seizures including progres
Autor:
Erica Waters, Holly Dubbs, Marjo S. van der Knaap, Sheel Pathak, Wendy G. Mitchell, Diane Masser-Frye, Ryan J. Taft, Guy Helman, Jamie L. Fraser, Elliott H. Sherr, Scott Demarest, Cas Simons, Samuel Mirrop, Amy Pizzino, Raphael Schiffmann, Geneviève Bernard, Keith Van Haren, Lisa Emrick, Katherine Dobbins, Jean Hayward, Ryan Boeck, Adeline Vanderver, Stephanie Keller, Justine Shults, Omar Sherbini, Jeffrey Cohn, Leah Zhorne, Abigail Collins, Jenny L. Wilson, Swati Karmarkar
Publikováno v:
Vanderver, A, Bernard, G, Helman, G, Sherbini, O, Boeck, R, Cohn, J, Collins, A, Demarest, S, Dobbins, K, Emrick, L, Fraser, J, Masser-Frye, D, Hayward, J, Karmarkar, S, Keller, S, Mirrop, S, Mitchell, W, Pathak, S, Sherr, E, van Haren, K, Waters, E, Wilson, J L, Zhorne, L, Schiffmann, R, van der Knaap, M S, Pizzino, A, Dubbs, H, Shults, J, Simons, C, Taft, R J & LeukoSEQ Workgroup 2020, ' Randomized Clinical Trial of First-Line Genome Sequencing in Pediatric White Matter Disorders ', Annals of Neurology, vol. 88, no. 2, pp. 264-273 . https://doi.org/10.1002/ana.25757
Annals of Neurology, 88(2), 264-273. John Wiley and Sons Inc.
Vanderver, A, Bernard, G, Helman, G, Sherbini, O, Boeck, R, Cohn, J, Collins, A, Demarest, S, Dobbins, K, Emrick, L, Fraser, J L, Masser-Frye, D, Hayward, J, Karmarkar, S, Keller, S, Mirrop, S, Mitchell, W, Pathak, S, Sherr, E, van Haren, K, Waters, E, Wilson, J L, Zhorne, L, Schiffmann, R, van der Knaap, M S, Pizzino, A, Dubbs, H, Shults, J, Simons, C & Taft, R J 2020, ' Randomized Clinical Trial of First-Line Genome Sequencing in Pediatric White Matter Disorders ', Annals of Neurology, vol. 88, no. 2, pp. 264-273 . https://doi.org/10.1002/ana.25757
Ann Neurol
Annals of Neurology, 88(2), 264-273. John Wiley and Sons Inc.
Vanderver, A, Bernard, G, Helman, G, Sherbini, O, Boeck, R, Cohn, J, Collins, A, Demarest, S, Dobbins, K, Emrick, L, Fraser, J L, Masser-Frye, D, Hayward, J, Karmarkar, S, Keller, S, Mirrop, S, Mitchell, W, Pathak, S, Sherr, E, van Haren, K, Waters, E, Wilson, J L, Zhorne, L, Schiffmann, R, van der Knaap, M S, Pizzino, A, Dubbs, H, Shults, J, Simons, C & Taft, R J 2020, ' Randomized Clinical Trial of First-Line Genome Sequencing in Pediatric White Matter Disorders ', Annals of Neurology, vol. 88, no. 2, pp. 264-273 . https://doi.org/10.1002/ana.25757
Ann Neurol
Objective: Genome sequencing (GS) is promising for unsolved leukodystrophies, but its efficacy has not been prospectively studied. Methods: A prospective time-delayed crossover design trial of GS to assess the efficacy of GS as a first-line diagnosti
Autor:
Emma M. Jenkinson, Imen Dorboz, Marzena Walkiewicz, Vladimir G. Gainullin, Guy Helman, Raphael Schiffmann, Long Guo, Shiro Ikegawa, Johanna L. Schmidt, Egor Dolzhenko, Christina M. Tan, Marjo S. van der Knaap, Ryan J. Taft, Noriko Miyake, Hans R. Waterham, Nicole I. Wolf, Geneviève Bernard, Adeline Vanderver, Grace M. Hobson, Sacha Ferdinandusse, Joanna Crawford, Asako Takanohashi, Stephen J. Bent, Andrew M. Gross, Cas Simons, Truus E.M. Abbink, Enrico Bertini, Susan M. Kirwin, Bryan R. Lajoie, Amy Pizzino
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 7, Iss 1, Pp 144-152 (2020)
Helman, G, Lajoie, B R, Crawford, J, Takanohashi, A, Walkiewicz, M, Dolzhenko, E, Gross, A M, Gainullin, V G, Bent, S J, Jenkinson, E M, Ferdinandusse, S, Waterham, H R, Dorboz, I, Bertini, E, Miyake, N, Wolf, N I, Abbink, T E M, Kirwin, S M, Tan, C M, Hobson, G M, Guo, L, Ikegawa, S, Pizzino, A, Schmidt, J L, Bernard, G, Schiffmann, R, van der Knaap, M S, Simons, C, Taft, R J & Vanderver, A 2020, ' Genome sequencing in persistently unsolved white matter disorders ', Annals of Clinical and Translational Neurology, vol. 7, no. 1, pp. 144-152 . https://doi.org/10.1002/acn3.50957
Annals of Clinical and Translational Neurology, 7(1), 144-152. John Wiley and Sons Ltd
Annals of Clinical and Translational Neurology
Annals of clinical and translational neurology, 7(1), 144-152. John Wiley and Sons Ltd
Helman, G, Lajoie, B R, Crawford, J, Takanohashi, A, Walkiewicz, M, Dolzhenko, E, Gross, A M, Gainullin, V G, Bent, S J, Jenkinson, E M, Ferdinandusse, S, Waterham, H R, Dorboz, I, Bertini, E, Miyake, N, Wolf, N I, Abbink, T E M, Kirwin, S M, Tan, C M, Hobson, G M, Guo, L, Ikegawa, S, Pizzino, A, Schmidt, J L, Bernard, G, Schiffmann, R, van der Knaap, M S, Simons, C, Taft, R J & Vanderver, A 2020, ' Genome sequencing in persistently unsolved white matter disorders ', Annals of Clinical and Translational Neurology, vol. 7, no. 1, pp. 144-152 . https://doi.org/10.1002/acn3.50957
Annals of Clinical and Translational Neurology, 7(1), 144-152. John Wiley and Sons Ltd
Annals of Clinical and Translational Neurology
Annals of clinical and translational neurology, 7(1), 144-152. John Wiley and Sons Ltd
Genetic white matter disorders have heterogeneous etiologies and overlapping clinical presentations. We performed a study of the diagnostic efficacy of genome sequencing in 41 unsolved cases with prior exome sequencing, resolving an additional 14 fro
Autor:
Emory Ryan, Tamanna Roshan Lal, Ellen Sidransky, Taylor Lindstrom, Alta M. Steward, Grisel Lopez, Somto Ukwuani, Raphael Schiffmann, Edythe Wiggs, Nahid Tayebi
Publikováno v:
Neurology
ObjectiveTo identify relevant efficacy parameters essential in designing clinical trials for brain-penetrant therapies for Gaucher disease, we evaluated cognitive function longitudinally in 34 patients with Gaucher disease type 3 seen at the NIH Clin
Autor:
Petter Strømme, Ferda Ozkinay, Heike Philippi, Pontus Wasling, Sebastien Moutton, Dagmar Timmann, Maria Vázquez-López, Pedro S Pinto, Annette Bley, A. Blaschek, Gabriel Á. Martos-Moreno, A. Micheil Innes, Alan Hill, Argirios Dinopoulos, Fiona Haslam McKenzie, Janice M. Fletcher, Barbara Plecko, Hanna Mierzewska, Matthis Synofzik, Cathy A. Stevens, Raphael Schiffmann, Janina Gburek-Augustat, Miriam Nickel, Constantin Polychronakos, Kether Guerrero, Susan M. Kirwin, Icíar Cimas, Inga Harting, Bwee Tien Poll-The, Vera Popovic, Coriene E. Catsman-Berrevoets, Simona Orcesi, Nicole I. Wolf, Laura Roos, Grace M. Hobson, Norberto Rodriguez Espinosa, Gert Wiegand, Bernard Brais, Julia Rankin, Marjo S. van der Knaap, Cyril Goizet, Michelle Demos, Sandra Pekic, Ingrid Tejera-Martin, Adeline Vanderver, Stefanie Perrier, Brent L. Fogel, Eriskay Liston, Meriel McEntagart, Ferdy K. Cayami, Bart P.C. van de Warrenburg, Anne Ronan, Paolo Gasparini, Bernard Corenblum, Joost Rotteveel, Mercedes Pineda Marfa, Roberta La Piana, Richard Webster, Eugen Boltshauser, Amytice Mirchi, Dietz Rating, Klara Brozova, Ingeborg Krägeloh-Mann, Marcelo Andrés Kauffman, Nesrin Senbil, Gerhard Kluger, Brenda Banwell, Flavio Faletra, Michel Sylvain, Urania Kotzaeridou, Tahir Atik, Raymond Fernandez, Stephan Saikali, William S. Benko, Fernando I Monton, Dorota Gieruszczak-Białek, Dolores Gonzalez Moron, Charles Marques Lourenço, Amy Pizzino, Ana Potic, Elsa Rossignol, Ton J. de Grauw, William T. Gibson, Luan T. Tran, Davide Tonduti, Rosalina M. L. van Spaendonk, Rocío Sánchez-Carpintero, Raymond P J Murphy, Guillaume Sébire, Daniela Pohl, Joshua L. Bonkowsky, Christopher Clough, Sandya Tirupathi, Maria Eugenia Garcia Garcia, Christoph Hertzberg, Serge Melançon, Anjum Misbahuddin, Félixe Pelletier, Evangeline Wassmer, Gail Dolan, Marie-France Rioux, Geneviève Bernard, Sunita Venkateswaran, Steffi Patzer, Aline Hamati, Helio Pedro, Hüseyin Onay, Drago Bratkovic, Petra Kolditz, Daniel Tibussek, Sakkubai Naidu, Nicole Ulrick, Emmanouil Rampakakis, William McClintock, Anna Schossig, Mohnish Suri, Grace Yoon, László Sztriha, John R. Østergaard
Publikováno v:
Pelletier, F, Perrier, S, Cayami, F K, Mirchi, A, Saikali, S, Tran, L T, Ulrick, N, Guerrero, K, Rampakakis, E, van Spaendonk, R M L, Naidu, S, Pohl, D, Gibson, W T, Demos, M, Goizet, C, Tejera-Martin, I, Potic, A, Fogel, B L, Brais, B, Sylvain, M, Sébire, G, Lourenço, C M, Bonkowsky, J L, Catsman-Berrevoets, C, Pinto, P S, Tirupathi, S, Strømme, P, de Grauw, T, Gieruszczak-Bialek, D, Krägeloh-Mann, I, Mierzewska, H, Philippi, H, Rankin, J, Atik, T, Banwell, B, Benko, W S, Blaschek, A, Bley, A, Boltshauser, E, Bratkovic, D, Brozova, K, Cimas, I, Clough, C, Corenblum, B, Dinopoulos, A, Dolan, G, Faletra, F, Fernandez, R, Fletcher, J, Garcia Garcia, M E, Gasparini, P, Gburek-Augustat, J, Gonzalez Moron, D, Hamati, A, Harting, I, Hertzberg, C, Hill, A, Hobson, G M, Innes, A M, Kauffman, M, Kirwin, S M, Kluger, G, Kolditz, P, Kotzaeridou, U, La Piana, R, Liston, E, McClintock, W, McEntagart, M, McKenzie, F, Melançon, S, Misbahuddin, A, Suri, M, Monton, F I, Moutton, S, Murphy, R P J, Nickel, M, Onay, H, Orcesi, S, Özkınay, F, Patzer, S, Pedro, H, Pekic, S, Pineda Marfa, M, Pizzino, A, Plecko, B, Poll-The, B T, Popovic, V, Rating, D, Rioux, M F, Rodriguez Espinosa, N, Ronan, A, Ostergaard, J R, Rossignol, E, Sanchez-Carpintero, R, Schossig, A, Senbil, N, Sønderberg Roos, L K, Stevens, C A, Synofzik, M, Sztriha, L, Tibussek, D, Timmann, D, Tonduti, D, van de Warrenburg, B P, Vázquez-López, M, Venkateswaran, S, Wasling, P, Wassmer, E, Webster, R I, Wiegand, G, Yoon, G, Rotteveel, J, Schiffmann, R, van der Knaap, M S, Vanderver, A, Martos-Moreno, G, Polychronakos, C, Wolf, N I & Bernard, G 2021, ' Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C ', The Journal of clinical endocrinology and metabolism, vol. 106, no. 2, pp. e660-e674 . https://doi.org/10.1210/clinem/dgaa700
Pelletier, F, Perrier, S, Cayami, F K, Mirchi, A, Saikali, S, Tran, L T, Ulrick, N, Guerrero, K, Rampakakis, E, van Spaendonk, R M L, Naidu, S, Pohl, D, Gibson, W T, Demos, M, Goizet, C, Tejera-Martin, I, Potic, A, Fogel, B L, Brais, B, Sylvain, M, Sebire, G, Lourenço, C M, Bonkowsky, J L, Catsman-Berrevoets, C, Pinto, P S, Tirupathi, S, Strømme, P, de Grauw, T, Gieruszczak-Bialek, D, Krägeloh-Mann, I, Mierzewska, H, Philippi, H, Rankin, J, Atik, T, Banwell, B, Benko, W S, Blaschek, A, Bley, A, Boltshauser, E, Bratkovic, D, Brozova, K, Cimas, I, Clough, C, Corenblum, B, Dinopoulos, A, Dolan, G, Faletra, F, Fernandez, R, Fletcher, J, Garcia Garcia, M E, Gasparini, P, Gburek-Augustat, J, Gonzalez Moron, D, Hamati, A, Harting, I, Hertzberg, C, Hill, A, Hobson, G M, Innes, A M, Kauffman, M, Kirwin, S M, Kluger, G, Kolditz, P, Kotzaeridou, U, La Piana, R, Liston, E, McClintock, W, McEntagart, M, McKenzie, F, Melançon, S, Misbahuddin, A, Suri, M, Monton, F I, Moutton, S, Murphy, R P J, Nickel, M, Onay, H, Orcesi, S, Özkınay, F, Patzer, S, Pedro, H, Pekic, S, Pineda Marfa, M, Pizzino, A, Plecko, B, Poll-The, B T, Popovic, V, Rating, D, Rioux, M-F, Rodriguez Espinosa, N, Ronan, A, Ostergaard, J R, Rossignol, E, Sanchez-Carpintero, R, Schossig, A, Senbil, N, Sønderberg Roos, L K, Stevens, C A, Synofzik, M, Sztriha, L, Tibussek, D, Timmann, D, Tonduti, D, van de Warrenburg, B P, Vázquez-López, M, Venkateswaran, S, Wasling, P, Wassmer, E, Webster, R I, Wiegand, G, Yoon, G, Rotteveel, J, Schiffmann, R, van der Knaap, M, Vanderver, A, Martos-Moreno, G Á, Polychronakos, C, Wolf, N I & Bernard, G 2021, ' Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C ', The Journal of clinical endocrinology and metabolism, vol. 106, no. 2, pp. e660-e674 . https://doi.org/10.1210/clinem/dgaa700
Journal of Clinical Endocrinology and Metabolism, 106, 2, pp. e660-e674
Journal of Clinical Endocrinology and Metabolism
Journal of Clinical Endocrinology and Metabolism, Endocrine Society, 2021, 106 (2), pp.E660-E674. ⟨10.1210/clinem/dgaa700⟩
Journal of Clinical Endocrinology and Metabolism, 106(2), E660-E674. Endocrine Society
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
The Journal of clinical endocrinology and metabolism, 106(2), e660-e674. Oxford University Press
The Journal of Clinical Endocrinology and Metabolism
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
Journal of Clinical Endocrinology and Metabolism, 106, e660-e674
The Journal of clinical endocrinology and metabolism, 106(2), e660-e674. The Endocrine Society
The journal of clinical endocrinology & metabolism 106(2), e660-e674 (2021). doi:10.1210/clinem/dgaa700
Pelletier, F, Perrier, S, Cayami, F K, Mirchi, A, Saikali, S, Tran, L T, Ulrick, N, Guerrero, K, Rampakakis, E, van Spaendonk, R M L, Naidu, S, Pohl, D, Gibson, W T, Demos, M, Goizet, C, Tejera-Martin, I, Potic, A, Fogel, B L, Brais, B, Sylvain, M, Sebire, G, Lourenço, C M, Bonkowsky, J L, Catsman-Berrevoets, C, Pinto, P S, Tirupathi, S, Strømme, P, de Grauw, T, Gieruszczak-Bialek, D, Krägeloh-Mann, I, Mierzewska, H, Philippi, H, Rankin, J, Atik, T, Banwell, B, Benko, W S, Blaschek, A, Bley, A, Boltshauser, E, Bratkovic, D, Brozova, K, Cimas, I, Clough, C, Corenblum, B, Dinopoulos, A, Dolan, G, Faletra, F, Fernandez, R, Fletcher, J, Garcia Garcia, M E, Gasparini, P, Gburek-Augustat, J, Gonzalez Moron, D, Hamati, A, Harting, I, Hertzberg, C, Hill, A, Hobson, G M, Innes, A M, Kauffman, M, Kirwin, S M, Kluger, G, Kolditz, P, Kotzaeridou, U, La Piana, R, Liston, E, McClintock, W, McEntagart, M, McKenzie, F, Melançon, S, Misbahuddin, A, Suri, M, Monton, F I, Moutton, S, Murphy, R P J, Nickel, M, Onay, H, Orcesi, S, Özkınay, F, Patzer, S, Pedro, H, Pekic, S, Pineda Marfa, M, Pizzino, A, Plecko, B, Poll-The, B T, Popovic, V, Rating, D, Rioux, M-F, Rodriguez Espinosa, N, Ronan, A, Ostergaard, J R, Rossignol, E, Sanchez-Carpintero, R, Schossig, A, Senbil, N, Sønderberg Roos, L K, Stevens, C A, Synofzik, M, Sztriha, L, Tibussek, D, Timmann, D, Tonduti, D, van de Warrenburg, B P, Vázquez-López, M, Venkateswaran, S, Wasling, P, Wassmer, E, Webster, R I, Wiegand, G, Yoon, G, Rotteveel, J, Schiffmann, R, van der Knaap, M, Vanderver, A, Martos-Moreno, G Á, Polychronakos, C, Wolf, N I & Bernard, G 2021, ' Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C ', The Journal of clinical endocrinology and metabolism, vol. 106, no. 2, pp. e660-e674 . https://doi.org/10.1210/clinem/dgaa700
Journal of Clinical Endocrinology and Metabolism, 106, 2, pp. e660-e674
Journal of Clinical Endocrinology and Metabolism
Journal of Clinical Endocrinology and Metabolism, Endocrine Society, 2021, 106 (2), pp.E660-E674. ⟨10.1210/clinem/dgaa700⟩
Journal of Clinical Endocrinology and Metabolism, 106(2), E660-E674. Endocrine Society
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
The Journal of clinical endocrinology and metabolism, 106(2), e660-e674. Oxford University Press
The Journal of Clinical Endocrinology and Metabolism
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
Journal of Clinical Endocrinology and Metabolism, 106, e660-e674
The Journal of clinical endocrinology and metabolism, 106(2), e660-e674. The Endocrine Society
The journal of clinical endocrinology & metabolism 106(2), e660-e674 (2021). doi:10.1210/clinem/dgaa700
Context 4H or POLR3-related leukodystrophy is an autosomal recessive disorder typically characterized by hypomyelination, hypodontia, and hypogonadotropic hypogonadism, caused by biallelic pathogenic variants in POLR3A, POLR3B, POLR1C, and POLR3K. Th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1343e0c39bf5133e3bb46b5d53289c04
https://hdl.handle.net/1871.1/41a14d43-770b-4a89-bd8f-5704f4571b69
https://hdl.handle.net/1871.1/41a14d43-770b-4a89-bd8f-5704f4571b69
Autor:
Alessandro P. Burlina, Mark Thomas, Alison Muir, Michael West, Aleš Linhart, Sandro Feriozzi, Joan Fletcher, Ana Jovanovic, James C. Moon, R. Giugliani, João Paulo Oliveira, Juan Politei, Raphael Schiffmann, Michael Mauer, Daniel G. Bichet, Olivier Lidove, Guillem Pintos-Morell, Christiane Auray-Blais, Alberto Ortiz, Patricio Aguiar, Duncan Cole, Mathias Beck, Perry M. Elliott, Camilla Tøndel, Derralynn Hughes, David Moreno-Martinez, Albina Nowak, Mirjam Langeveld, Andrew Talbot, Einar Svarstad, David G. Warnock, Christoph Kampmann, Paula Rozenfeld, Ulla Feldt-Rasmussen
Publikováno v:
Molecular Genetics and Metabolism
Molecular Genetics and Metabolism, Elsevier, 2021, 132 (4), pp.234-243. ⟨10.1016/j.ymgme.2021.02.001⟩
Moreno-Martinez, D, Aguiar, P, Auray-Blais, C, Beck, M, Bichet, D G, Burlina, A, Cole, D, Elliott, P, Feldt-Rasmussen, U, Feriozzi, S, Fletcher, J, Giugliani, R, Jovanovic, A, Kampmann, C, Langeveld, M, Lidove, O, Linhart, A, Mauer, M, Moon, J C, Muir, A, Nowak, A, Oliveira, J P, Ortiz, A, Pintos-Morell, G, Politei, J, Rozenfeld, P, Schiffmann, R, Svarstad, E, Talbot, A S, Thomas, M, Tøndel, C, Warnock, D, West, M L & Hughes, D A 2021, ' Standardising clinical outcomes measures for adult clinical trials in Fabry disease : A global Delphi consensus ', Molecular Genetics and Metabolism, vol. 132, no. 4, pp. 234-243 . https://doi.org/10.1016/j.ymgme.2021.02.001
Molecular genetics and metabolism, 132(4), 234-243. Academic Press Inc.
Molecular Genetics and Metabolism, Elsevier, 2021, 132 (4), pp.234-243. ⟨10.1016/j.ymgme.2021.02.001⟩
Moreno-Martinez, D, Aguiar, P, Auray-Blais, C, Beck, M, Bichet, D G, Burlina, A, Cole, D, Elliott, P, Feldt-Rasmussen, U, Feriozzi, S, Fletcher, J, Giugliani, R, Jovanovic, A, Kampmann, C, Langeveld, M, Lidove, O, Linhart, A, Mauer, M, Moon, J C, Muir, A, Nowak, A, Oliveira, J P, Ortiz, A, Pintos-Morell, G, Politei, J, Rozenfeld, P, Schiffmann, R, Svarstad, E, Talbot, A S, Thomas, M, Tøndel, C, Warnock, D, West, M L & Hughes, D A 2021, ' Standardising clinical outcomes measures for adult clinical trials in Fabry disease : A global Delphi consensus ', Molecular Genetics and Metabolism, vol. 132, no. 4, pp. 234-243 . https://doi.org/10.1016/j.ymgme.2021.02.001
Molecular genetics and metabolism, 132(4), 234-243. Academic Press Inc.
International audience; Background: Recent years have witnessed a considerable increase in clinical trials of new investigational agents for Fabry disease (FD). Several trials investigating different agents are currently in progress; however, lack of
Autor:
John R. Cottrell, Sarah Woidill, Angela N. Viaene, Asako Takanohashi, Adeline Vanderver, Marianna Bugiani, Cas Simons, Rebecca Berger, Marjolein Breur, Guy Helman, Yanick J. Crow, Raphael Schiffmann
Publikováno v:
Helman, G, Viaene, A N, Takanohashi, A, Breur, M, Berger, R, Woidill, S, Cottrell, J R, Schiffmann, R, Crow, Y J, Simons, C, Bugiani, M & Vanderver, A 2021, ' Cerebral Microangiopathy in Leukoencephalopathy With Cerebral Calcifications and Cysts: A Pathological Description ', Journal of Child Neurology, vol. 36, no. 2, pp. 133-140 . https://doi.org/10.1177/0883073820958330
Journal of Child Neurology, 36(2), 133-140. SAGE Publications Inc.
Journal of Child Neurology, 36(2), 133-140. SAGE Publications Inc.
Leukoencephalopathy with calcifications and cysts (LCC) is a neurological syndrome recently associated with pathogenic variants in SNORD118. We report autopsy neuropathological findings from an individual with genetically confirmed LCC. Histologic st