Metabolism of Non-Enzymatically Derived Oxysterols: Clues from sterol metabolic disorders
Griffiths, William J., Yutuc, Eylan, Abdel-Khalik, Jonas, Crick, Peter J., Hearn, Thomas, Dickson, Alison, Bigger, Brian W., Hoi-Yee Wu, Teresa, Goenka, Anu, Ghosh, Arunabha, Jones, Simon A., Covey, Douglas F., Ory, Daniel S., Wang, Yuqin
Published in Free radical biology & medicine (20.11.2019)
Published in Free radical biology & medicine (20.11.2019)
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Twice weekly dosing with Sebelipase alfa (Kanuma®) rescues severely ill infants with Wolman disease
de Castro, María José, Jones, Simon A, de Las Heras, Javier, Sánchez-Pintos, Paula, Couce, María L, Colón, Cristóbal, Crujeiras, Pablo, Unceta, María, Church, Heather, Brammeier, Kathryn, Yee, Wu Hoi, Cooper, James, López de Frutos, Laura, Serrano-Gonzalo, Irene, Camba, María José, White, Fiona J, Holmes, Victoria, Ghosh, Arunabha
Published in Orphanet journal of rare diseases (25.06.2024)
Published in Orphanet journal of rare diseases (25.06.2024)
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Hepatomegaly and Splenomegaly: An Approach to the Diagnosis of Lysosomal Storage Diseases
Jerves Serrano, Teodoro, Gold, Jessica, Cooper, James A, Church, Heather J, Tylee, Karen L, Wu, Hoi Yee, Kim, Sun Young, Stepien, Karolina M
Published in Journal of clinical medicine (01.03.2024)
Published in Journal of clinical medicine (01.03.2024)
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Incidental Detection of Classical Galactosemia through Newborn Screening for Phenylketonuria: A 10-Year Retrospective Audit to Determine the Efficacy of This Approach
Cantley, Nathan W P, Barski, Robert, Kemp, Helena, Hogg, Sarah L, Wu, Hoi Yee Teresa, Bowron, Ann, Collingwood, Catherine, Cundick, Jennifer, Hart, Claire, Shakespeare, Lynette, Preece, Mary Anne, Aitkenhead, Helen, Smith, Sarah, Carling, Rachel S, Moat, Stuart J
Published in International journal of neonatal screening (22.12.2023)
Published in International journal of neonatal screening (22.12.2023)
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Identification of unusual oxysterols and bile acids with 7-oxo or 3β,5α,6β-trihydroxy functions in human plasma by charge-tagging mass spectrometry with multistage fragmentation[S]
Griffiths, William J., Gilmore, Ian, Yutuc, Eylan, Abdel-Khalik, Jonas, Crick, Peter J., Hearn, Thomas, Dickson, Alison, Bigger, Brian W., Wu, Teresa Hoi-Yee, Goenka, Anu, Ghosh, Arunabha, Jones, Simon A., Wang, Yuqin
Published in Journal of lipid research (01.06.2018)
Published in Journal of lipid research (01.06.2018)
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CHronic hypERtension and L-citRulline studY (CHERRY): an Early-Phase Randomised Controlled Trial in Pregnancy
Ormesher, Laura, Worton, Stephanie A., Best, Ashley, Dodd, Susanna R., Dempsey, Alice, Cottrell, Elizabeth C., Glossop, Heather, Chmiel, Catherine, Wu, Hoi Yee, Hardwick, Ben, Hennessy, Sophie, Johnstone, Edward D., Myers, Jenny E.
Published in Reproductive sciences (Thousand Oaks, Calif.) (01.02.2024)
Published in Reproductive sciences (Thousand Oaks, Calif.) (01.02.2024)
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Management guidelines for infantile onset lysosomal acid lipase deficiency (LALD)
Jones, Simon A., AlSayed, Moeenaldeen, Broomfield, Alexander A., White, Fiona, Roberts, Jane, Vijay, Suresh, Wu, Hoi-Yee, de las Heras, Javier, Church, Heather, Van Spronsen, Francjan J., Gökçay, Gülden, Arvonen, Miika, Gargus, John Jay, Slae, Mordechai, Ghosh, Arunabha
Published in Molecular genetics and metabolism (01.02.2018)
Published in Molecular genetics and metabolism (01.02.2018)
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A UK-based pre-pilot newborn screening study for metachromatic leukodytrosphy identified a late infantile case
Wu, Teresa Hoi-Yee, Brown, Heather, Church, Heather J., Hutton, Rebekah, Ram, Dipak, Kershaw, Christopher, Chanson, Charlotte, Henderson, Michael J., Bigger, Brian, Jones, Simon
Published in Molecular genetics and metabolism (01.02.2024)
Published in Molecular genetics and metabolism (01.02.2024)
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