Zobrazeno 1 - 10
of 63
pro vyhledávání: '"C. Anthony Rupar"'
Autor:
Alison H. Howie, Kylie Tingley, Michal Inbar-Feigenberg, John J. Mitchell, Kim Angel, Jenifer Gentle, Maureen Smith, Martin Offringa, Nancy J. Butcher, Philippe M. Campeau, Pranesh Chakraborty, Alicia Chan, Dean Fergusson, Eva Mamak, Peyton McClelland, Saadet Mercimek-Andrews, Aizeddin Mhanni, Zeinab Moazin, Cheryl Rockman-Greenberg, C. Anthony Rupar, Becky Skidmore, Sylvia Stockler, Kednapa Thavorn, Alexandra Wyatt, Beth K. Potter, INFORM RARE Network
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-15 (2024)
Abstract Background To inform the development of a core outcome set (COS) for children and youth with mucopolysaccharidoses (MPS), we aimed to identify all outcomes and associated outcome measurement instruments that are reported in recent clinical t
Externí odkaz:
https://doaj.org/article/3f5faa2b5e894b579d9b0f0a9ed05831
Publikováno v:
Frontiers in Neurology, Vol 15 (2024)
BackgroundEarly-onset progressive encephalopathy with brain edema and/or leukoencephalopathy (PEBEL-1) is an autosomal recessive disorder whereby a fluctuating clinical course is exacerbated by febrile illnesses. Pathogenic NAD(P)HX epimerase (NAXE)
Externí odkaz:
https://doaj.org/article/7b2cbf5177b0492eafc118dc319b95a3
Autor:
Montaha Almudhry, Arushi Gahlot Saini, Mohammed A. Al-Omari, Yashu Sharma, Maryam Nabavi Nouri, C. Anthony Rupar, Chitra Prasad, Andrea C. Yu, Savita Verma Attri, Asuri Narayan Prasad
Publikováno v:
Frontiers in Neurology, Vol 14 (2023)
BackgroundMitochondrial DNA (mtDNA) depletion syndromes (MDDS) are genetically and clinically variable disorders resulting from a reduction in mtDNA content in the cells, tissues, and organ systems, leading to symptoms related to energy deficits. Def
Externí odkaz:
https://doaj.org/article/95cf92e5f71543ae952641731392dc85
Autor:
Amr H. Saleh, Michael Rothe, Dwayne L. Barber, William M. McKillop, Graeme Fraser, Chantal F. Morel, Axel Schambach, Christiane Auray-Blais, Michael L. West, Aneal Khan, Daniel H. Fowler, C. Anthony Rupar, Ronan Foley, Jeffrey A. Medin, Armand Keating
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 28, Iss , Pp 262-271 (2023)
The safety and efficacy of lentivirus-mediated gene therapy was recently demonstrated in five male patients with Fabry disease—a rare X-linked lysosomal storage disorder caused by GLA gene mutations that result in multiple end-organ complications.
Externí odkaz:
https://doaj.org/article/94ca546755434fd5983165124cd0e623
Autor:
Montaha Almudhry, Asuri N. Prasad, C. Anthony Rupar, Keng Yeow Tay, Suzanne Ratko, Mary E. Jenkins, Chitra Prasad
Publikováno v:
Frontiers in Neurology, Vol 14 (2023)
BackgroundMolybdenum cofactor deficiency (MoCD) (OMIM# 252150) is an autosomal-recessive disorder caused by mutations in four genes involved in the molybdenum cofactor (MOCO) biosynthesis pathway.ObjectivesWe report a milder phenotype in a patient wi
Externí odkaz:
https://doaj.org/article/77688a34b6584fefa2932cfdf9d1af5f
Autor:
Aneal Khan, Dwayne L. Barber, Ju Huang, C. Anthony Rupar, Jack W. Rip, Christiane Auray-Blais, Michel Boutin, Pamela O’Hoski, Kristy Gargulak, William M. McKillop, Graeme Fraser, Syed Wasim, Kaye LeMoine, Shelly Jelinski, Ahsan Chaudhry, Nicole Prokopishyn, Chantal F. Morel, Stephen Couban, Peter R. Duggan, Daniel H. Fowler, Armand Keating, Michael L. West, Ronan Foley, Jeffrey A. Medin
Publikováno v:
Nature Communications, Vol 12, Iss 1, Pp 1-9 (2021)
Treatments for Fabry disease, an inherited lysosomal disorder caused by the deficiency of the enzyme alpha-galactosidase A, are not fully efficacious. Here the authors report a single-arm phase I trial of gene therapy with autologous, lentivirus-tran
Externí odkaz:
https://doaj.org/article/e1df374ec9104eca99e1b0892655fcfa
Publikováno v:
JIMD Reports, Vol 51, Iss 1, Pp 105-112 (2020)
Abstract Background and Objectives There is a paucity of information on the use of complementary and alternative medicine (CAM) in patients with inborn errors of metabolism (IEM). This study's objective was to evaluate the self‐reported use and per
Externí odkaz:
https://doaj.org/article/0bef0f357d6a449f9e6d3d6b6e139f5f
Autor:
Maha Saleh, Samantha Colaiacovo, Melanie P. Napier, Asuri N. Prasad, C. Anthony Rupar, Chitra Prasad
Publikováno v:
Case Reports in Genetics, Vol 2022 (2022)
We describe the diagnostic odyssey of an eight-year-old female born to consanguineous parents. Our patient presented with global developmental delay, regression, microcephaly, spastic diplegia, and leukodystrophy confirmed on brain magnetic resonance
Externí odkaz:
https://doaj.org/article/552b48ccc969443b9db8207a45c133aa
Autor:
Ju Huang, Aneal Khan, Bryan C. Au, Dwayne L. Barber, Lucía López-Vásquez, Nicole L. Prokopishyn, Michel Boutin, Michael Rothe, Jack W. Rip, Mona Abaoui, Murtaza S. Nagree, Shaalee Dworski, Axel Schambach, Armand Keating, Michael L. West, John Klassen, Patricia V. Turner, Sandra Sirrs, C. Anthony Rupar, Christiane Auray-Blais, Ronan Foley, Jeffrey A. Medin
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 5, Iss C, Pp 241-258 (2017)
Fabry disease is a rare lysosomal storage disorder (LSD). We designed multiple recombinant lentivirus vectors (LVs) and tested their ability to engineer expression of human α-galactosidase A (α-gal A) in transduced Fabry patient CD34+ hematopoietic
Externí odkaz:
https://doaj.org/article/72a85a8769b142ad9ecbd535f945b6c9
Autor:
Sali M. K. Farhan, Jian Wang, John F. Robinson, Piya Lahiry, Victoria M. Siu, Chitra Prasad, Jonathan B. Kronick, David A. Ramsay, C. Anthony Rupar, Robert A. Hegele
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 2, Iss 1, Pp 73-80 (2014)
Abstract Iron‐sulfur (Fe‐S) clusters are a class of highly conserved and ubiquitous prosthetic groups with unique chemical properties that allow the proteins that contain them, Fe‐S proteins, to assist in various key biochemical pathways. Mutat
Externí odkaz:
https://doaj.org/article/1eb51256fe8f4b6ca24045e47c3b068a