Zobrazeno 1 - 10
of 11
pro vyhledávání: '"Neal Weinreb"'
Autor:
Lisa Sniderman King, Mario Aguiar, Alexandra Chiorean, Alexandra Dumitriu, Judy Hull, Pramod Mistry, François Modave, Martin Montmerle, Patrick Pavlick, Neha Shah, Neal Weinreb, Amanda Wilson
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100338- (2023)
Externí odkaz:
https://doaj.org/article/60a31db4c76d41c8a628dff2f07e0b45
Autor:
Deborah Elstein, Nadia Belmatoug, Patrick Deegan, Özlem Göker-Alpan, Derralynn A. Hughes, Ida Vanessa D. Schwartz, Neal Weinreb, Nicola Bonner, Charlotte Panter, Donna Fountain, Andrew Lenny, Louise Longworth, Rachael Miller, Koonal Shah, Jörn Schenk, Rohini Sen, Ari Zimran
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-13 (2022)
Abstract Background Disease-specific patient-reported outcome measures (PROMs) are fundamental to understanding the impact on, and expectations of, patients with genetic disorders, and can facilitate constructive and educated conversations about trea
Externí odkaz:
https://doaj.org/article/8a9a96490a25457892be79016fa556e9
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-15 (2021)
Abstract Background Fractures in Gaucher disease type 1 (GD1) patients cause significant morbidity. Fracture risk may be decreased by enzyme replacement therapy (ERT) but not eliminated. When considering initiation of treatment, it is useful to know
Externí odkaz:
https://doaj.org/article/12a2074a30a14594b7044472457acd13
Autor:
Michael L. Ganz, Sean Stern, Alex Ward, Luba Nalysnyk, Martin Selzer, Alaa Hamed, Neal Weinreb
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 12, Iss 1, Pp 1-9 (2017)
Abstract Background The Disease Severity Scoring System (DS3) is a validated measure for evaluating Gaucher disease type 1 (GD1) severity. We developed a new framework, consisting of health states, transition probabilities between those states, and p
Externí odkaz:
https://doaj.org/article/b325d8cbe5cb46a28b44ca2fadcb91d9
Autor:
Christopher Kai Shun Leung, Alexander Ka Ngai Lam, Robert Neal Weinreb, David F. Garway-Heath, Marco Yu, Philip Yawen Guo, Vivian Sheung Man Chiu, Kelvin Ho Nam Wan, Mandy Wong, Ken Zhongheng Wu, Carol Yim Lui Cheung, Chen Lin, Carmen Kar Mun Chan, Noel Ching Yan Chan, Ka Wai Kam, Gilda Wing Ki Lai
Publikováno v:
Nature Biomedical Engineering. 6:593-604
The clinical diagnostic evaluation of optic neuropathies relies on the analysis of the thickness of the retinal nerve fibre layer (RNFL) by optical coherence tomography (OCT). However, false positives and false negatives in the detection of RNFL abno
Autor:
Lisa Sniderman King, Mario Aguiar, Alexandra Chiorean, Alexandra Dumitriu, Pramod Mistry, François Modave, Martin Montmerle, Patrick Pavlick, Neal Weinreb, Amanda Wilson
Publikováno v:
Molecular Genetics and Metabolism. 135:S114
Publikováno v:
Southern Medical Journal. 91:637-642
Public interest concerning euthanasia and doctor-assisted suicide is creating ethical dilemmas in the health care profession. We surveyed the views of oncologists and non-oncologists in Florida.Physicians responded to an attitudinal questionnaire. Th
Autor:
Christopher Kai-Shun, Leung, Carol Yim-Lui, Cheung, Robert Neal, Weinreb, Shu, Liu, Cong, Ye, Gilda, Lai, Nancy, Liu, Chi Pui, Pang, Kwok Kay, Tse, Dennis Shun Chiu, Lam
Publikováno v:
Ophthalmology. 118(4)
To compare the performance of the fast (256 A-scans in each scan circle) and the regular (512 A-scans in each scan circle) retinal nerve fiber layer (RNFL) scan protocols for detection of glaucoma progression using the Stratus optical coherence tomog
Autor:
Neal Weinreb
Publikováno v:
Lysosomal Storage Disorders ISBN: 9780387709086
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::fb69f296d24dcbc752b6641530899d84
https://doi.org/10.1007/978-0-387-70909-3_22
https://doi.org/10.1007/978-0-387-70909-3_22
Autor:
Neal Weinreb, Harriet S. Gilbert
Publikováno v:
New England Journal of Medicine. 295:1096-1101
The presence of several serum protein abnormalities in Gaucher's disease prompted a study of vitamin B12 binding proteins, in which 14 of 15 consecutive patients displayed increased circulating transcobalamin II unassociated with elevations of serum