Zobrazeno 1 - 10
of 28
pro vyhledávání: '"Sonia S Maruti"'
Autor:
Irene M Stratton, Elvira L Massó-González, Sonia S Maruti, Clare Bailey, Peter H Scanlon, Victor Chong, Michael Ehrlich, Sobha Sivaprasad, Clareece R Nevill
Publikováno v:
Eye
Aims To estimate the incidence of early treatment diabetic retinopathy study (ETDRS) level 47 and 53 and progression to treatment with panretinal photocoagulation (PRP) for proliferative DR (PDR). Methods Log-linear regression was used to estimate th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a5a4e0319cf0e6569eb91e8f358189bf
https://doi.org/10.1038/s41433-021-01471-8
https://doi.org/10.1038/s41433-021-01471-8
Autor:
Nathan Thibault, Sonia S. Maruti, Karien Verhulst, Roberto Araujo, Matthias Boentert, David W. Stockton, Juan C. Llerena, Ans T. van der Ploeg, Priya S. Kishnani, Barry J. Byrne, Mark Roberts, Kenneth I. Berger
Publikováno v:
Journal of Neurology, 267(10), 3038-3053. D. Steinkopff-Verlag
Journal of Neurology
Journal of Neurology
Objective To examine respiratory muscle function among late-onset Pompe disease (LOPD) patients in the Pompe Registry (NCT00231400/Sanofi Genzyme) during enzyme replacement therapy (ERT) with alglucosidase alfa by assessing the longitudinal course of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d7129c65af5acf6525e67244183ba9e9
https://doi.org/10.1007/s00415-020-09936-8
https://doi.org/10.1007/s00415-020-09936-8
Autor:
Victor Chong, Michael Ehrlich, Clare Bailey, Peter H Scanlon, Elvira L Massó-González, Sobha Sivaprasad, Clareece R Nevill, Sonia S Maruti, Irene M Stratton
Purpose\ud To estimate prevalence and incidence of diabetic retinopathy (DR) in a UK region by severity between 2012 and 2016 and risk factors for progression to proliferative DR (PDR).\ud \ud Methods\ud Electronic medical records from people with di
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::48a3a94d77ac1b4294026883bfebd0c1
https://eprints.glos.ac.uk/9770/1/9770_Scanlon_et_al_(2021)_Prevalence_and_incidence_of_diabetic_retinopathy_(DR)_in_the_UK_population_of_Gloucestershire.pdf
https://eprints.glos.ac.uk/9770/1/9770_Scanlon_et_al_(2021)_Prevalence_and_incidence_of_diabetic_retinopathy_(DR)_in_the_UK_population_of_Gloucestershire.pdf
Autor:
Arnold J. J. Reuser, Ans T. Ploeg, Yin‐Hsiu Chien, Juan Llerena, Mary‐Alice Abbott, Paula R. Clemens, Virginia E. Kimonis, Nancy Leslie, Sonia S. Maruti, Bernd‐Jan Sanson, Roberto Araujo, Magali Periquet, Antonio Toscano, Priya S. Kishnani, null on behalf of the Pompe Registry Sit, Monica Y. Niño, Stijn L.M. in 't Groen, Atze J. Bergsma, Nadine A.M.E. Beek, Marian Kroos, Marianne Hoogeveen‐Westerveld, W.W.M. Pim Pijnappel
Publikováno v:
Human Mutation. 40
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6d857374b03b004863896934dea22dd6
https://doi.org/10.1002/humu.23934
https://doi.org/10.1002/humu.23934
Autor:
Sonia S. Maruti, Ana Jovanovic, Juan Politei, Robert J. Hopkin, Joel Charrow, João Paulo Oliveira, Manesh R. Patel, Daniel G. Bichet, Gustavo Cabrera, Alberto Ortiz, Dominique P. Germain, David G. Warnock, Stephen Waldek, Christoph Wanner, Ademola K. Abiose, Han Wook Yoo, Michael Mauer, Aleš Linhart
Publikováno v:
Journal of Medical Genetics
Background Agalsidase β is a form of enzyme replacement therapy for Fabry disease, a genetic disorder characterised by low α-galactosidase A activity, accumulation of glycosphingolipids and life-threatening cardiovascular, renal and cerebrovascular
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::79c4c02cfa3af853268d59985260c682
https://doi.org/10.1136/jmedgenet-2015-103486
https://doi.org/10.1136/jmedgenet-2015-103486
Autor:
Katia M.C. Verhamme, Al Artaman, Rachel E. Sobel, Sonia S. Maruti, Tamar Lasky, Osemeke U. Osokogu, Angela S. Czaja
Publikováno v:
Pharmacoepidemiology and Drug Safety. 25:738-742
Purpose We report on a needs assessment conducted by the International Society of Pharmacoepidemiology (ISPE) Pediatric Special Interest Group (SIG) to identify critical needs in pediatric pharmacoepidemiology and directions for future activities. Me
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a2482647706af8f3c6e5d5509378e166
https://doi.org/10.1002/pds.3985
https://doi.org/10.1002/pds.3985
Autor:
Arnold J. J. Reuser, Ans T. Ploeg, Yin‐Hsiu Chien, Juan Llerena, Mary‐Alice Abbott, Paula R. Clemens, Virginia E. Kimonis, Nancy Leslie, Sonia S. Maruti, Bernd‐Jan Sanson, Roberto Araujo, Magali Periquet, Antonio Toscano, Priya S. Kishnani, null on behalf of the Pompe Registry Sit
Publikováno v:
Human Mutation
Human Mutation. Wiley-Liss Inc.
Human Mutation. Wiley-Liss Inc.
Identification of variants in the acid α‐glucosidase (GAA) gene in Pompe disease provides valuable insights and systematic overviews are needed. We report on the number, nature, frequency, and geographic distribution of GAA sequence variants liste
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ce3952e7f5e4c1b1bbe967940bf14600
https://pubmed.ncbi.nlm.nih.gov/31342611
https://pubmed.ncbi.nlm.nih.gov/31342611
Autor:
Barry J. Byrne, Mark Roberts, Kenneth I. Berger, David W. Stockton, Nathan Thibault, Sonia S. Maruti, Juan C. Llerena, Ans T. van der Ploeg, Priya S. Kishnani, Roberto Araujo, Matthias Boentert
Publikováno v:
Molecular Genetics and Metabolism. 126:S140
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8fc00626595b605ee1e6f7c749f68aab
https://doi.org/10.1016/j.ymgme.2018.12.360
https://doi.org/10.1016/j.ymgme.2018.12.360
Autor:
JoAnn Prunty, Shuying S. Li, Irena B. King, Lin Li, Yvonne Schwarz, Johanna W. Lampe, Jyh Lurn Chang, John D. Potter, Sonia S. Maruti
Publikováno v:
Nutrition and Cancer. 62:208-219
beta-glucuronidase, an acid hydrolase that deconjugates glucuronides, may increase cancer risk; however, little is known about factors associated with human beta -glucuronidase. Our objective was to examine whether dietary and demographic factors wer
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::49af5944bbe4e1fbcbb877ee3b8d17c3
https://doi.org/10.1080/01635580903305375
https://doi.org/10.1080/01635580903305375
Publikováno v:
The American Journal of Clinical Nutrition. 89:624-633
Background: Few epidemiologic studies have examined very high intakes of folate and whether consumption of nutrients involved in one-carbon metabolism is associated with breast cancer risk. Objective: We prospectively examined whether the consumption
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f4231b40e6c5ec73597c36f541fb52ab
https://doi.org/10.3945/ajcn.2008.26568
https://doi.org/10.3945/ajcn.2008.26568