Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Eleanor G. Botha"'
Autor:
Kayla A. Quirin, Eleanor G. Botha, Maria Keever, Valynne Long, Allison L. Foley, Dawn A. Laney
Publikováno v:
Molecular Genetics and Metabolism. 135:S103
Autor:
Erin M. Stege, Raymond Y. Wang, Priya S. Kishnani, Sean N. Prater, Suhrad G. Banugaria, Harrison N. Jones, Eleanor G. Botha, Stephanie DeArmey, Laura E. Case, Chanika Phornphutkul, Sarah P. Young
Publikováno v:
Genetics in Medicine. 14:800-810
Enzyme replacement therapy with alglucosidase alfa for infantile Pompe disease has improved survival creating new management challenges. We describe an emerging phenotype in a retrospective review of long-term survivors. Inclusion criteria included v
Autor:
Yousef Shafeghati, Junko Oshima, Abhimanyu Garg, Eleanor G. Botha, Brian K. Kennedy, Heloísa G. dos Santos, Nancy B. Hanson, Lin Lee, George M. Martin, Olav Sletvold, Lishan Chen, I. Saira Mian, Brian A. Kudlow
Publikováno v:
The Lancet. 362:440-445
Summary Background Werner's syndrome is a progeroid syndrome caused by mutations at the WRN helicase locus. Some features of this disorder are also present in laminopathies caused by mutant LMNA encoding nuclear lamin A/C. Because of this similarity,
Autor:
Kathryn L. Berrier, Eleanor G. Botha, Anna Tylki-Szymańska, Jennifer L. Goldstein, Priya S. Kishnani, Deeksha Bali, Carolyn Ellaway, Mihaela Stefanescu, Amy S. Rosenburg, Catherine Rehder, Nesrin Karabul, Kaustuv Bhattacharya, Zoheb B. Kazi, Sean N. Prater
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics
Enzyme replacement therapy (ERT) with recombinant human acid α-glucosidase (rhGAA) prolongs survival in infantile Pompe disease (IPD). However, the majority of cross-reactive immunologic material (CRIM)–negative (CN) patients have immune responses
Publikováno v:
Molecular Genetics and Metabolism. 114:S61-S62
Publikováno v:
JIMD Reports ISBN: 9783642355172
Pompe disease, especially in its infantile form, is a fatal disease. Most of the patients with this disease synthesize a nonfunctional form of the enzyme alpha glucosidase (GAA), the deficient enzyme in this disease. Patients producing some amount of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9b1652f29bbbe264022d9989f15a9fca
https://doi.org/10.1007/8904_2012_192
https://doi.org/10.1007/8904_2012_192
Autor:
Eleanor G. Botha, Raymond Y. Wang, Divya Ajay, Priya S. Kishnani, Khoon Ghee Tan, Anne F. Buckley, John S. Wiener, S. Grace Prakalapakorn, Sujay Kansagra, Stephanie Austin, Richard M. Kravitz
Publikováno v:
Molecular Genetics and Metabolism. 114:S16
Publikováno v:
Molecular Genetics and Metabolism. 108:S18
Pompe disease, especially in its infantile form, is a fatal disease. Most of the patients with this disease synthesize a nonfunctional form of the enzyme alpha glucosidase (GAA), the deficient enzyme in this disease. Patients producing some amount of