Pathophysiology of fatty acid oxidation disorders and resultant phenotypic variability

por Olpin, Simon E
Publicado 2013

Imaging and cancer of the cervix in low- and middle-income countries

por Olpin, J., Chuang, L., Berek, J., Gaffney, D.
Publicado 2018

Influence of Social Media Uses and Gratifications on Family Health among U.S. Parents: A Cross-Sectional Study

por Olpin, Eliza, Hanson, Carl L., Crandall, AliceAnn
Publicado 2023

The Association of COVID-19 Stressors and Family Health on Overeating before and during the COVID-19 Pandemic

por Kim, Rahee, Olpin, Eliza, Novilla, Lynneth Kirsten, Crandall, AliceAnn
Publicado 2022

Recurrent rhabdomyolysis caused by carnitine palmitoyltransferase II deficiency, common but under-recognised: Lessons to be learnt

por Balasubramanian, M., Jenkins, T.M., Kirk, R.J., Nesbitt, I.M., Olpin, S.E., Hill, M., Gillett, G.T.
Publicado 2018

Response to Finsterer: CPT-II deficiency needs to be detected in army personnel

por Balasubramanian, M., Jenkins, T.M., Kirk, R.J., Nesbitt, I.M., Olpin, S.E., Hill, M., Gillett, G.T.
Publicado 2018

Biochemical assessment of patients following ketogenic diets for epilepsy: Current practice in the UK and Ireland

por Schoeler, Natasha E., Simpson, Zoe, Whiteley, Victoria J., Nguyen, Patty, Meskell, Rachel, Lightfoot, Kathyrn, Martin‐McGill, Kirsty J., Olpin, Simon, Ivison, Fiona
Publicado 2019

Investigation and Functional Characterization of Rare Genetic Variants in the Adipose Triglyceride Lipase in a Large Healthy Working Population

por Coassin, Stefan, Schweiger, Martina, Kloss-Brandstätter, Anita, Lamina, Claudia, Haun, Margot, Erhart, Gertraud, Paulweber, Bernhard, Rahman, Yusof, Olpin, Simon, Wolinski, Heimo, Cornaciu, Irina, Zechner, Rudolf, Zimmermann, Robert, Kronenberg, Florian
Publicado 2010

Gene expression signatures in motor neurone disease fibroblasts reveal dysregulation of metabolism, hypoxia-response and RNA processing functions

por Raman, R, Allen, S P, Goodall, E F, Kramer, S, Ponger, L-L, Heath, P R, Milo, M, Hollinger, H C, Walsh, T, Highley, J R, Olpin, S, McDermott, C J, Shaw, P J, Kirby, J
Publicado 2015

A recessive homozygous p.Asp92Gly SDHD mutation causes prenatal cardiomyopathy and a severe mitochondrial complex II deficiency

por Alston, Charlotte L., Ceccatelli Berti, Camilla, Blakely, Emma L., Oláhová, Monika, He, Langping, McMahon, Colin J., Olpin, Simon E., Hargreaves, Iain P., Nolli, Cecilia, McFarland, Robert, Goffrini, Paola, O’Sullivan, Maureen J., Taylor, Robert W.
Publicado 2015

Thermo‐sensitive mitochondrial trifunctional protein deficiency presenting with episodic myopathy

por Schwantje, Marit, Ebberink, Merel S., Doolaard, Mirjam, Ruiter, Jos P. N., Fuchs, Sabine A., Darin, Niklas, Hedberg‐Oldfors, Carola, Régal, Luc, Donker Kaat, Laura, Huidekoper, Hidde H., Olpin, Simon, Cole, Duncan, Moat, Stuart J., Visser, Gepke, Ferdinandusse, Sacha
Publicado 2022

Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2

por Foley, A. Reghan, Menezes, Manoj P., Pandraud, Amelie, Gonzalez, Michael A., Al-Odaib, Ahmad, Abrams, Alexander J., Sugano, Kumiko, Yonezawa, Atsushi, Manzur, Adnan Y., Burns, Joshua, Hughes, Imelda, McCullagh, B. Gary, Jungbluth, Heinz, Lim, Ming J., Lin, Jean-Pierre, Megarbane, Andre, Urtizberea, J. Andoni, Shah, Ayaz H., Antony, Jayne, Webster, Richard, Broomfield, Alexander, Ng, Joanne, Mathew, Ann A., O’Byrne, James J., Forman, Eva, Scoto, Mariacristina, Prasad, Manish, O’Brien, Katherine, Olpin, Simon, Oppenheim, Marcus, Hargreaves, Iain, Land, John M., Wang, Min X., Carpenter, Kevin, Horvath, Rita, Straub, Volker, Lek, Monkol, Gold, Wendy, Farrell, Michael O., Brandner, Sebastian, Phadke, Rahul, Matsubara, Kazuo, McGarvey, Michael L., Scherer, Steven S., Baxter, Peter S., King, Mary D., Clayton, Peter, Rahman, Shamima, Reilly, Mary M., Ouvrier, Robert A., Christodoulou, John, Züchner, Stephan, Muntoni, Francesco, Houlden, Henry
Publicado 2014