Zobrazeno 1 - 10
of 28
pro vyhledávání: '"Thomas A. Burrow"'
Autor:
Katherine Abell, Laurie Bailey, Miguel Islas-Ohlmayer, Rosane Bittencourt, Thomas A. Burrow, Sarah E. Chadwell, Ida Vanessa Doederlein Schwartz, Xue Zhang, Carlos E. Prada, Paul Steele, Ana Paula Pizzio Becker
Publikováno v:
American journal of medical genetics. Part C, Seminars in medical geneticsREFERENCES. 184(4)
Multiple myeloma is the most common hematological malignancy in Gaucher disease type 1 (GD1). There is a lack of outcome data and consensus regarding screening of gammopathies. This study explores utility of screening in Porto Alegre, Brazil, and Cin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::23189f3518b3c70039711484b176925f
https://pubmed.ncbi.nlm.nih.gov/33277783
https://pubmed.ncbi.nlm.nih.gov/33277783
Autor:
James A. Wohlschlegel, Jill A. Rosenfeld, Isabelle Coppens, Janet Markle, Marsha Pratt, Nawal Makhseed, Xianghui Chen, Thomas A. Burrow, Yu Zhang, Timothy S. Wang, Santosh R. Mordekar, Noelle R. Danylchuk, Michael E. Meadow, Kyle Metz, Daniel Crooks, Satish Agadi, Katrina Peariso, Gerard T. Berry, Michael J. Parker, Hee Jong Kim, Esther Leshinsky-Silver, Dianalee McKnight, Christine Stanley, Tobias Loddenkemper, Adam L. Hartman, Isabelle Prehl, Gustavo Maegawa, J. Marie Hardwick, Adolfo Garnica, Abdel Aouacheria, Min Tsui Ong, Parul Jayakar, Weimin Bi, Heather M. Lamb, Hatha Gbedawo, Michael Alber, Bart E. Wagner, Thomas C. Markello, Yaping Yang, Glenn Anderson, Xinchen Teng, Edda Haberlandt, Pankaj B. Agrawal
Publikováno v:
Annals of Neurology
Annals of Neurology, 2018, 84 (5), pp.766-780. ⟨10.1002/ana.25351⟩
Annals of Neurology, Wiley, 2018, 84 (5), pp.766-780. ⟨10.1002/ana.25351⟩
Annals of Neurology, 2018, 84 (5), pp.766-780. ⟨10.1002/ana.25351⟩
Annals of Neurology, Wiley, 2018, 84 (5), pp.766-780. ⟨10.1002/ana.25351⟩
International audience; OBJECTIVE:Several small case series identified KCTD7 mutations in patients with a rare autosomal recessive disorder designated progressive myoclonic epilepsy (EPM3) and neuronal ceroid lipofuscinosis (CLN14). Despite the name
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e934647c53095a558f35a183951ec7ee
https://doi.org/10.1002/ana.25351
https://doi.org/10.1002/ana.25351
Autor:
Raghu H. Ramakrishnaiah, Shelley E. Crary, Sukesh Sukumaran, Thomas A. Burrow, Debopam Samanta
Publikováno v:
Pediatric Neurology. 96:37-39
Background Aicardi-Goutieres syndrome is an early-onset encephalopathy with presumed immune pathogenesis caused by inherited defects in nucleic acid metabolism. It is a model disease to study systemic autoimmunity, and there are many clinical, geneti
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::063812511e919193b9515c112f68dc9c
https://doi.org/10.1016/j.pediatrneurol.2019.01.017
https://doi.org/10.1016/j.pediatrneurol.2019.01.017
Autor:
Joel Charrow, Manisha Balwani, Hans C. Andersson, Thomas A. Burrow, Barry E. Rosenbloom, Neal J. Weinreb, Edwin H. Kolodny, Aneal Khan, Priya S. Kishnani, Julie L. Batista, C. Ronald Scott, Pramod K. Mistry, Paige Kaplan
Publikováno v:
American Journal of Hematology
This study tests the hypothesis that the prevalence of severe clinical manifestations in Gaucher disease type 1 (GD1) patients at the time of treatment initiation has changed since alglucerase/imiglucerase enzyme replacement therapy (ERT) was approve
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c3cf4ef54b043861ad98aba02a023072
https://doi.org/10.1002/ajh.24801
https://doi.org/10.1002/ajh.24801
Autor:
Wujuan Zhang, Thomas A. Burrow, Gregory A. Grabowski, Benjamin Liou, Jörg Köhl, Mary McKay, Lisa J. Martin, Kenneth D.R. Setchell, Reena Rani, Albert F. Magnusen, David P. Witte, Manoj K. Pandey
Publikováno v:
Nature. 543:108-112
Gaucher disease is caused by mutations in GBA1, which encodes the lysosomal enzyme glucocerebrosidase (GCase). GBA1 mutations drive extensive accumulation of glucosylceramide (GC) in multiple innate and adaptive immune cells in the spleen, liver, lun
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9c9c9d9463d64c3cf955a9612d18a5eb
https://doi.org/10.1038/nature21368
https://doi.org/10.1038/nature21368
Autor:
Usha Kini, Jonathan A. Bernstein, Matthew E. Hurles, Jennifer Glass, Katherine Selby, Han G. Brunner, Christiane Zweier, Ammar Husami, Megan Landsverk, Robert J. Hopkin, Mary K. Kukolich, Andrea Hanson-Kahn, R. Frank Kooy, Koenraad Devriendt, Daniele Merico, Clara D.M. van Karnebeek, Anne Gregor, Yoyo W. Y. Chu, Nicola Foulds, Brian H.Y. Chung, Maja Tarailo-Graovac, Frank McGehee, Christian R. Marshall, Bert B.A. de Vries, Alberto Fernández-Jaén, Stephanie Greville-Heygate, Kate Tatton Brown, Nathalie Van der Aa, Dorothea Gadzicki, Sara Álvarez, Dimitri J. Stavropoulos, David Chitayat, Margot I. Van Allen, Kathleen Collins, Ralitza H. Gavrilova, Katie Wusik, Janneke H M Schuurs-Hoeijmakers, Thomas A. Burrow
Publikováno v:
American Journal of Medical Genetics. Part A, 170, 3, pp. 670-5
American Journal of Medical Genetics. Part A, 170, 670-5
American journal of medical genetics : part A
American journal of medical genetics. Part A, 170(3), 670-675. Wiley-Liss Inc.
American Journal of Medical Genetics. Part A, 170, 670-5
American journal of medical genetics : part A
American journal of medical genetics. Part A, 170(3), 670-675. Wiley-Liss Inc.
We report on 19 individuals with a recurrent de novo c.607C>T mutation in PACS1. This specific mutation gives rise to a recognizable intellectual disability syndrome. There is a distinctive facial appearance (19/19), characterized by full and arched
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b18e85f0ea214a68a5c5253ac6992689
https://doi.org/10.1002/ajmg.a.37476
https://doi.org/10.1002/ajmg.a.37476
Publikováno v:
Clinical Investigation. 5:543-549
Gaucher disease (GD) is an autosomal recessive lysosomal storage disorder caused by deficiency of the enzyme acid β-glucosidase. Enzyme replacement therapy is the standard of care for the treatment of GD type I. Currently, three preparations, includ
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4dbcba59cf62aed828ed6805dd9ba472
https://doi.org/10.4155/cli.15.19
https://doi.org/10.4155/cli.15.19
Autor:
Barry E. Rosenbloom, Guillermo Drelichman, Renata Cravo, Leorah Ross, Ana Maria Martins, Elena Lukina, Ana Cristina Puga, Manisha Balwani, Thomas A. Burrow, Timothy M. Cox, Jennifer Angell
Publikováno v:
The Lancet. 385:2355-2362
Summary Background The mainstay of treatment for Gaucher's disease type 1 is alternate-week infusion of enzyme replacement therapy (ERT). We investigated whether patients stable on such treatment would remain so after switching to oral eliglustat, a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d66cb93b7ffe0cc37f2c2394d3afbd39
https://doi.org/10.1016/s0140-6736(14)61841-9
https://doi.org/10.1016/s0140-6736(14)61841-9
Autor:
Wujuan Zhang, David P. Witte, Steve W. Wu, Kenneth D.R. Setchell, Amanda Brewer, Mitchell B. Cohen, Gregory A. Grabowski, Laurie Bailey, Thomas A. Burrow, Ying Sun, Carlos E. Prada
Publikováno v:
Molecular Genetics and Metabolism. 114:233-241
A Caucasian male with Gaucher disease type 3, treated with continuous enzyme therapy (ET) for 11 years, experienced progressive mesenteric and retroperitoneal lymphadenopathy, lung disease, and neurological involvement leading to death at an age of 1
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9e11cbf604b8ef7316e096a6cf175c22
https://doi.org/10.1016/j.ymgme.2014.08.011
https://doi.org/10.1016/j.ymgme.2014.08.011
Autor:
Amal El-Beshlawy, Ana Maria Martins, Renata Cravo, Sebastiaan J.M. Gaemers, M. Judith Peterschmitt, Guillermo Drelichman, Timothy M. Cox, Ozlem Goker-Alpan, Elena Lukina, Barry E. Rosenbloom, Manisha Balwani, Thomas A. Burrow, Regina Tayag, Maria Lucia Alves Pedroso, Priya S. Kishnani, Nora Watman
In the phase 3 Study of Eliglustat Tartrate (Genz-112638) in Patients With Gaucher Disease Who Have Reached Therapeutic Goals With Enzyme Replacement Therapy (ENCORE), at 1 year, eliglustat was noninferior to imiglucerase enzyme therapy in maintainin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e29f459cc07cfd59247d00312a84f24d
