Clinical, biochemical, and genetic features of four patients with short‐chain enoyl‐CoA hydratase (ECHS1) deficiency
Fitzsimons, Patricia E., Alston, Charlotte L., Bonnen, Penelope E., Hughes, Joanne, Crushell, Ellen, Geraghty, Michael T., Tetreault, Martine, O'Reilly, Peter, Twomey, Eilish, Sheikh, Yusra, Walsh, Richard, Waterham, Hans R., Ferdinandusse, Sacha, Wanders, Ronald J. A., Taylor, Robert W., Pitt, James J., Mayne, Philip D.
Published in American journal of medical genetics. Part A (01.05.2018)
Published in American journal of medical genetics. Part A (01.05.2018)
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Journal Article
Hypoglycemia is not a defining feature of metabolic crisis in mitochondrial 3‐hydroxy‐3‐methylglutaryl‐CoA synthase deficiency: Further evidence of specific biochemical markers which may aid diagnosis
Conlon, Tracey A., Fitzsimons, Patricia E., Borovickova, Ingrid, Kirby, Fidelma, Murphy, Sinéad, Knerr, Ina, Crushell, Ellen
Published in JIMD reports (01.09.2020)
Published in JIMD reports (01.09.2020)
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Journal Article
Nonalcoholic Red Wine Extract and Quercetin Inhibit LDL Oxidation without Affecting Plasma Antioxidant Vitamin and Carotenoid Concentrations
Chopra, Mridula, Fitzsimons, Patricia E.E, Strain, John J, Thurnham, David I, Howard, Alan N
Published in Clinical chemistry (Baltimore, Md.) (01.08.2000)
Published in Clinical chemistry (Baltimore, Md.) (01.08.2000)
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Journal Article
P426 Profound metabolic acidosis and hypertriglyceridaemia in mitochondrial 3-hydroxy-3-methylglutaryl-CoA (HMG-CoA) synthase- 2 deficiency (HMGCS2D)
Conlon, Tracey A, Fitzsimons, Patricia E, Kaninde, Abhidhamma, Borovickova, Ingrid, Crushell, Ellen
Published in Archives of disease in childhood (01.06.2019)
Published in Archives of disease in childhood (01.06.2019)
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Journal Article
Hypoglycemia is not a defining feature of metabolic crisis in mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency: Further evidence of specific biochemical markers which may aid diagnosis
Conlon, Tracey A, Fitzsimons, Patricia E, Borovickova, Ingrid, Kirby, Fidelma, Murphy, Sinéad, Knerr, Ina, Crushell, Ellen
Published in JIMD reports (01.09.2020)
Published in JIMD reports (01.09.2020)
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Report
Dialysis and gel filtration of isolated low density lipoproteins do not cause a significant loss of low density lipoprotein tocopherol and carotenoid concentration
Chopra, Mridula, Fitzsimons, Patricia, Hopkins, Marie, Thurnham, David I.
Published in Lipids (01.02.2001)
Published in Lipids (01.02.2001)
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Journal Article
Ultrasound examination in the diagnosis of popliteal artery aneurysms
MacGowan, S W, Saif, M F, O'Neill, G, Fitzsimons, P, Bouchier-Hayes, D
Published in British journal of surgery (01.07.1985)
Published in British journal of surgery (01.07.1985)
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Journal Article
Percutaneous drainage of iliopsoas abscess in Crohn's disease
Millward, S F, Ramsewak, W, Fitzsimons, P, Frost, R, Tam, P, Toi, A
Published in Gastrointestinal radiology (01.01.1986)
Published in Gastrointestinal radiology (01.01.1986)
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Journal Article