Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Jane E. Potter"'
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:
Su Han Lum, Milen Minkov, Simon A. Jones, Sheree Hazelaar, Tiarlan Sirait, Jane E. Potter, Polina Stepensky, Frederic Garban, Herbert Pichler, Jerry Stein, Zuhre Kaya, Ansgar Schulz, Karin Mellgren, Cristina Diaz de Heredia, Cecile Pochon, Susana Riesco, Miguel Angel Diaz, Gérard Michel, Caroline Lindemans, Bernd Gruhn, Michael H. Albert, Arjan C. Lankester, Bénédicte Neven, Robert Wynn
Publikováno v:
Bone Marrow Transplantation. 58:594-596
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e6f14c88487f5ec096acc2daadb62c27
https://doi.org/10.1038/s41409-023-01918-4
https://doi.org/10.1038/s41409-023-01918-4
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