Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Fiona J. White"'
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:
Rebecca Halligan, Fiona J. White, Bernd Schwahn, Karolina M. Stepien, Nazreen Kamarus Jaman, Mel McSweeney, Steve Kitchen, Joanna Gribben, Charlotte Dawson, Katherine Lewis, David Cregeen, Helen Mundy, Saikat Santra
Publikováno v:
JIMD Reports, Vol 59, Iss 1, Pp 52-59 (2021)
Abstract Glycogen storage disease type Ib (GSDIb) is characterized by hepatomegaly and fasting hypoglycaemia as well as neutropaenia and recurrent infections. We conducted a retrospective observational study on a cohort of patients with GSDIb across
Externí odkaz:
https://doaj.org/article/90f760d60ce44f528516665b5bb177a9
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:
Georgina Wood, Alex Pinto, Sharon Evans, Anne Daly, Sandra Adams, Susie Costelloe, Joanna Gribben, Charlotte Ellerton, Anita Emm, Sarah Firman, Suzanne Ford, Moira French, Lisa Gaff, Emily Giuliano, Melanie Hill, Inderdip Hunjan, Camille Newby, Allison Mackenzie, Rachel Pereira, Celine Prescott, Louise Robertson, Heidi Seabert, Rachel Skeath, Simon Tapley, Allyson Terry, Alison Tooke, Karen van Wyk, Fiona J. White, Lucy White, Alison Woodall, Júlio César Rocha, Anita MacDonald
Publikováno v:
Nutrients, Vol 13, Iss 11, p 3977 (2021)
Patients with phenylketonuria (PKU) are reliant on special low protein foods (SLPFs) as part of their dietary treatment. In England, several issues regarding the accessibility of SLPFs through the national prescribing system have been highlighted. Th
Externí odkaz:
https://doaj.org/article/6e7a8d21eab944f4a506b4712f9b9a0b
Autor:
Fiona J. White
Publikováno v:
Clinical Paediatric Dietetics
Autor:
Francesco Porro, Simone Orsenigo, Thomas Abeli, Andrea Mondoni, Anna Corli, Fiona J. White, Silvano Lodetti, Marcello Tomaselli, Alessandro Petraglia, Michele Carbognani, Matteo Gualmini, T’ai G. W. Forte, Brigitta Erschbamer, Lena Nicklas, Pau Carnicero, Martin Mallaun, Peter Unterluggauer, Angela Stanisci, Carmen Giancola, Luciano di Martino, Elena Barni, Ludovica Oddi, Umberto Morra di Cella, Rodolfo Gentili, Roberto Dellavedova, Michele Adorni, Harald Pauli, Graziano Rossi
We announce the formation of the “GLORIA ITALIA NETWORK” and present an overview of the Italian alpine plant communities changes that have occurred in the last 20 years. This network will provide coordination between Italian GLORIA sites and enha
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::02320b6e6470e91a9fb8f42134c54470
http://hdl.handle.net/2318/1822845
http://hdl.handle.net/2318/1822845
Publikováno v:
The Journal of pediatrics. 136(4)
To investigate whether dietary relaxation or cessation in patients with phenylketonuria (PKU) predisposes to vitamin B12 deficiency.Patients with PKU aged 11 to 38 years underwent a neurologic examination and dietetic assessment and were divided acco
Publikováno v:
Biochemical Society Transactions. 12:791-792