Zobrazeno 1 - 10
of 61
pro vyhledávání: '"Raphael Schiffmann"'
Autor:
Benoit Coulombe, Elisabeth Meloche, Geneviève Bernard, Raphael Schiffmann, Claudia L. Kleinman, Marc R. Fabian, Marie-Josée Dicaire, Martin Teichmann, Karine Choquet, Adeline Vanderver, Diane Forget, Bernard Brais
Publikováno v:
The Journal of Biological Chemistry
RNA polymerase III (Pol III) is an essential enzyme responsible for the synthesis of several small noncoding RNAs, a number of which are involved in mRNA translation. Recessive mutations in POLR3A, encoding the largest subunit of Pol III, cause POLR3
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:
Felix Beuschlein, Albina Nowak, Frédéric Barbey, Raphael Schiffmann, Uyen Huynh-Do, Pierre-Alexandre Krayenbuehl
Publikováno v:
Nowak, Albina; Huynh-Do, Uyen; Krayenbuehl, Pierre-Alexandre; Beuschlein, Felix; Schiffmann, Raphael; Barbey, Frédéric (2019). Fabry disease genotype, phenotype, and migalastat amenability: Insights from a national cohort. Journal of inherited metabolic diseases, 43(2), pp. 326-333. Wiley 10.1002/jimd.12167
Fabry disease (FD) is a rare X-linked lysosomal storage disorder caused by α-galactosidase A (α-Gal A) deficiency. The progressive accumulation of globotriaosylceramide results in life-threatening complications, including renal, cardiac, and cerebr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2cf6a49ab896d76a69d9cb42e7834544
https://doi.org/10.5167/uzh-173838
https://doi.org/10.5167/uzh-173838
Autor:
Raphael Schiffmann, Mona Bugaighis, Quasar S Padiath, Julian Curiel, Asako Takanohashi, Xiaoqin Fu, Judy S. Liu, Adeline Vanderver, Marjo S. van der Knaap, Guy Helman, Cas Simons, Guillermo Rodríguez Bey, Nicole I. Wolf, Marianna Bugiani, Bruce Nmezi, Tyler Mark Pierson
Publikováno v:
Human Molecular Genetics, 26(22), 4506-4518. Oxford University Press
Curiel, J, Bey, G R, Takanohashi, A, Bugiani, M, Fu, X, Wolf, N I, Nmezi, B, Schiffmann, R, Bugaighis, M, Pierson, T, Helman, G, Simons, C, van der Knaap, M S, Liu, J, Padiath, Q & Vanderver, A 2017, ' TUBB4A mutations result in specific neuronal and oligodendrocytic defects that closely match clinically distinct phenotypes ', Human Molecular Genetics, vol. 26, no. 22, pp. 4506-4518 . https://doi.org/10.1093/hmg/ddx338
Human molecular genetics, vol 26, iss 22
Hum Mol Genet
Curiel, J, Bey, G R, Takanohashi, A, Bugiani, M, Fu, X, Wolf, N I, Nmezi, B, Schiffmann, R, Bugaighis, M, Pierson, T, Helman, G, Simons, C, van der Knaap, M S, Liu, J, Padiath, Q & Vanderver, A 2017, ' TUBB4A mutations result in specific neuronal and oligodendrocytic defects that closely match clinically distinct phenotypes ', Human Molecular Genetics, vol. 26, no. 22, pp. 4506-4518 . https://doi.org/10.1093/hmg/ddx338
Human molecular genetics, vol 26, iss 22
Hum Mol Genet
Hypomyelinating leukodystrophies are heritable disorders defined by lack of development of brain myelin, but the cellular mechanisms of hypomyelination are often poorly understood. Mutations in TUBB4A, encoding the tubulin isoform tubulin beta class
Autor:
Jay A. Barth, Benjamin Bronfin, David J. Lockhart, William R. Wilcox, Robert J. Desnick, Daniel G. Bichet, Dominique P. Germain, Xiaoyang Wu, John Kirk, Raphael Schiffmann, Hadis Williams, Roberto Giugliani, Julie Yu, Sarah Bond, Elfrida R. Benjamin, Kenneth J. Valenzano, Farhana Pruthi, Carrolee Barlow, Derralynn Hughes, Maria Cecilia Della Valle, Evan Katz, Jeff Castelli
Publikováno v:
Genetics in Medicine
Purpose: Fabry disease is an X-linked lysosomal storage disorder caused by mutations in the α-galactosidase A gene. Migalastat, a pharmacological chaperone, binds to specific mutant forms of α-galactosidase A to restore lysosomal activity. Methods:
Autor:
Norman W. Barton, Grisel Lopez, Ellen Sidransky, Neal J. Weinreb, Raphael Schiffmann, Pramod K. Mistry
Publikováno v:
Molecular Genetics and Metabolism. 120:8-21
Over the past decades, tremendous progress has been made in the field of Gaucher disease, the inherited deficiency of the lysosomal enzyme glucocerebrosidase. Many of the colossal achievements took place during the course of the sixty-year tenure of
Autor:
James Y. Garbern, José Francisco da Silva Franco, Gen Nishimura, Melanie A. Knight, Débora Romeo Bertola, Asako Takanohashi, Raphael Schiffmann, Chong Ae Kim, Maria Rita Passos-Bueno, Rachel Sayuri Honjo, Kinya Ishikawa, Pelin Ozlem Simsek-Kiper, Margaret Timmons, Yuko Segawa, Hirofumi Ohashi, Kenneth H. Fischbeck, Cas Simons, Takanori Yokota, Long Guo, Alan Boyde, Carlos Ferreira, Noriko Miyake, Shiro Ikegawa, Zheng Wang, J. Spranger, Guilherme L. Yamamoto, Adeline Vanderver, Asuka Saito, Yoichiro Nishida, Naomichi Matsumoto, Andrew B. Singleton, Camila Manso Musso, Ryan J. Taft, Bryan R. Lajoie, Amy Pizzino, Pamela Gehron Robey, Li Yan, Satoru Ishibashi
Publikováno v:
American journal of human genetics. 104(5)
Colony stimulating factor 1 receptor (CSF1R) plays key roles in regulating development and function of the monocyte/macrophage lineage, including microglia and osteoclasts. Mono-allelic mutations of CSF1R are known to cause hereditary diffuse leukoen
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:
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:
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/