Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Kathryn Brammeier"'
Autor:
María José de Castro, Simon A Jones, Javier de las Heras, Paula Sánchez-Pintos, María L Couce, Cristóbal Colón, Pablo Crujeiras, María Unceta, Heather Church, Kathryn Brammeier, Wu Hoi Yee, James Cooper, Laura López de Frutos, Irene Serrano-Gonzalo, María José Camba, Fiona J. White, Victoria Holmes, Arunabha Ghosh
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-9 (2024)
Abstract Background Sebelipase alfa (Kanuma®) is approved for patients with Wolman disease (WD) at a dosage of 3–5 mg/kg once weekly. Survival rates in the second of two clinical trials was greater, despite recruiting more severely ill patients, p
Externí odkaz:
https://doaj.org/article/b5c38565cdd44d16807759d4ee950516
Autor:
Jane E. Potter, Gemma Petts, Arunabha Ghosh, Fiona J. White, Jane L. Kinsella, Stephen Hughes, Jane Roberts, Adam Hodgkinson, Kathryn Brammeier, Heather Church, Christine Merrigan, Joanne Hughes, Pamela Evans, Helen Campbell, Denise Bonney, William G. Newman, Brian W. Bigger, Alexander Broomfield, Simon A. Jones, Robert F. Wynn
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-14 (2021)
Abstract Background Wolman disease is a rare, lysosomal storage disorder in which biallelic variants in the LIPA gene result in reduced or complete lack of lysosomal acid lipase. The accumulation of the substrates; cholesterol esters and triglyceride
Externí odkaz:
https://doaj.org/article/d3be9f8f7dcb489b904a47d7c2643970
Autor:
Denise Bonney, Alexander Broomfield, Fiona White, Jane Roberts, Jane Louise Kinsella, Arunabha Ghosh, Robert Wynn, Joanne Hughes, Jane E. Potter, Helen Campbell, Christine Merrigan, Pamela Evans, Adam Hodgkinson, Gemma Petts, Simon Jones, Heather J. Church, Stephen M. Hughes, Brian W. Bigger, William G. Newman, Kathryn Brammeier
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-14 (2021)
Potter, J, Newman, W, Jones, S, Wynn, R, Ghosh, A, Broomfield, A & Bigger, B 2021, ' Enzyme replacement therapy and hematopoietic stem cell transplant: a new paradigm of treatment in Wolman disease ', Orphanet Journal of Rare Diseases, vol. 16, no. 1, 235 . https://doi.org/10.1186/s13023-021-01849-7
Orphanet Journal of Rare Diseases
Potter, J, Newman, W, Jones, S, Wynn, R, Ghosh, A, Broomfield, A & Bigger, B 2021, ' Enzyme replacement therapy and hematopoietic stem cell transplant: a new paradigm of treatment in Wolman disease ', Orphanet Journal of Rare Diseases, vol. 16, no. 1, 235 . https://doi.org/10.1186/s13023-021-01849-7
Orphanet Journal of Rare Diseases
BackgroundWolman disease is a rare, lysosomal storage disorder in which biallelic variants in theLIPAgene result in reduced or complete lack of lysosomal acid lipase. The accumulation of the substrates; cholesterol esters and triglycerides, significa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::646bbf105331fe78fffe045b41d6488f
https://doaj.org/article/d3be9f8f7dcb489b904a47d7c2643970
https://doaj.org/article/d3be9f8f7dcb489b904a47d7c2643970
Publikováno v:
BMJ Sexual & Reproductive Health. 45:68-70
Unplanned, closely-spaced pregnancies increase the risk of maternal and child morbidity and mortality.1 The Royal College of Obstetricians and Gynaecologists (RCOG) and the Faculty of Sexual & Reproductive Healthcare (FSRH) recommend that discussion
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f5960b555f72cd5d66bf3d0af17d1924
https://doi.org/10.1136/bmjsrh-2017-101924
https://doi.org/10.1136/bmjsrh-2017-101924