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Author P Fitzsimons

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Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCADD) in the Irish Paediatric Population

Z Mesbah, K Sing Ho, P Fitzsimons, A A Monavari, E Crushell, P D Mayne,

Ir Med J (Irish medical journal)
[2020, 112(10):1016]

Cited: 0 times

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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.

Tracey A Conlon, Patricia E Fitzsimons, Ingrid Borovickova, Fidelma Kirby, Sinéad Murphy, Ina Knerr, Ellen Crushell,

Mitochondrial 3-hydroxy-3-methylglutaryl-CoA (HMG Co-A) synthase (mHS) deficiency is an autosomal recessive disorder of ketone body synthesis which has traditionally been associated with hypoketotic hypoglycemia, hepatomegaly and encephalopathy, presenting in early childhood following a period of fasting. We report the third case of mHS deficiency presenting in the absence of hypoglycemia, ... Read more >>

JIMD Rep (JIMD reports)
[2020, 55(1):26-31]

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Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCADD) in the Irish Paediatric Population.

Z Mesbah, K Sing Ho, P Fitzsimons, A A Monavari, P D Mayne, E Crushell,

Aim This study aims to investigate the disease frequency of Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCADD) among the Irish population. Methods Children (<18 years) with MCADD were identified via the National Centre for Inherited Metabolic Disorders and the metabolic laboratory at Temple Street Children's University Hospital. Central Statistics Office population ... Read more >>

Ir Med J (Irish medical journal)
[2019, 112(10):1016]

Cited: 0 times

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Clinical, biochemical, and genetic features of four patients with short-chain enoyl-CoA hydratase (ECHS1) deficiency.

Patricia E Fitzsimons, Charlotte L Alston, Penelope E Bonnen, Joanne Hughes, Ellen Crushell, Michael T Geraghty, Martine Tetreault, Peter O'Reilly, Eilish Twomey, Yusra Sheikh, Richard Walsh, Hans R Waterham, Sacha Ferdinandusse, Ronald J A Wanders, Robert W Taylor, James J Pitt, Philip D Mayne,

Short-chain enoyl-CoA hydratase (SCEH or ECHS1) deficiency is a rare inborn error of metabolism caused by biallelic mutations in the gene ECHS1 (OMIM 602292). Clinical presentation includes infantile-onset severe developmental delay, regression, seizures, elevated lactate, and brain MRI abnormalities consistent with Leigh syndrome (LS). Characteristic abnormal biochemical findings are secondary ... Read more >>

Am J Med Genet A (American journal of medical genetics. Part A)
[2018, 176(5):1115-1127]

Cited: 10 times

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Further evidence that d-glycerate kinase (GK) deficiency is a benign disorder.

Attia Kalim, Patricia Fitzsimons, Claudia Till, Malkanthi Fernando, Philip Mayne, Jorn Oliver Sass, Ellen Crushell,

d-Glyceric aciduria is caused by deficiency in d-glycerate kinase (GK) due to recessive mutations in the GLYCTK gene. GK catalyzes the conversion of d-glycerate to 2-phosphoglycerate which is an intermediary reaction in the catabolism of serine and fructose. Deficiency of GK leads to accumulation of d-glycerate, which may be detected ... Read more >>

Brain Dev (Brain & development)
[2017, 39(6):536-538]

Cited: 1 time

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18th Meeting of the Irish Society of Human Genetics, Friday 4th September 2015 : Dublin City University

HA Deeny, AM Murphy, D O'Rourke, S Gallagher, G Rea, JS Ware, EG Lightman, R Walsh, S John, T Homfray, J Till, S Prasad, R Buchan, S Wilkinson, PJR Barton, SA Cook, TP McVeigh, N Cody, M Meany, C Carroll, R O'Shea, DJ Gallagher, C Clabby, AJ Green, J Casey, E Crushell, J Hughes, E Losty, D Slattery, A Green, S Ennis, SA Lynch, CW Kirk, S McKee, DDD Project, M Al Shehhi, S Shen, L Gallagher, DR Betts, L McArdle, A Green, SA Lynch, EM Quinn, C Coleman, B Molloy, P Dominguez Castro, V Trimble, N Mahmud, R McManus, TP McVeigh, S Jung, D Salzman, MJ Kerin, S Nallur, M Dookwah, AA Nemec, J Sadofsky, T Paranjape, O Kelly, E. Chan, N Miller, KJ Sweeney, D Zelterman, J Sweasy, R Pilarski, D Telesca, JB Weidhaas, CP Stapleton, M McCormack, D Connaughton, PJ Phelan, GL Cavalleri, PJ Conlon, E Gilbert, S O'Reilly, M Merrigan, D McGettigan, G Cavalleri, SB Heavin, M McCormack, L Slattery, N Walley, A Avbersek, J Novy, S Sinha, N Alarts, B Legros, R Radtke, C Doherty, C Depondt, S Sisodiya, D Goldstein, N Delanty, GL Cavalleri, MA Nesbit, DG Courtney, EHA Allen, SD Atkinson, E Maurizi, JE Moore, DM Leslie Pedrioli, WHI McLean, CBT Moore, CW Kirk, A Green, G Rea, J Petyrka, M Vieira, JS Ware, R Walsh, S John, S Prasad, R Buchan, S Wilkinson, S Prasad, PJR Barton, SA Cook, DE Donnelly, T O'Neill, R Hardy, PJ Morrison, M Hegarty, M Irvine, T Dabir, X Zhang, T Dineen, J Flanagan, A Kovacs, R Mihart, J O'Callaghan, J Culligan, N Daly, D McAuliffe, J Waterstone, TP McVeigh, P Owens, N Miller, C Guerin, D Quill, M Bell, AJ Lowery, MJ Kerin, TP McVeigh, KJ Sweeney, MJ Kerin, DJ Gallagher, TP McVeigh, L Bradley, J Casey, DE Barton, SA Lynch, SA Lynch, J Matthews, J Turner, J Casey, JJ O'Byrne, PE Fitzsimons, S Unger, J Croft, PD Mayne, E Moylette, C McDonnell, SA Lynch, JJ O'Byrne, VE Parker, M Al-Shehhi, PM Kelly, C Costigan, A Hegarty, R Knox, S Byrne, DR Betts, LRK. Semple, L Bradley, AJ Green, A Irvine, SA Lynch, L McArdle, J McDaid, H Ryan, A Dunne, DR Betts, DM Lambert, EP Treacy, SM Lynch, MM McKenna, CP Walsh, DJ McKenna, L Whitton, D Cosgrove, C Clarkson, M Gill, A Corvin, S Rea, G Donohoe, D Morris, J Neville, AM Ryan, CK Hand, E Ryan, F Ryan, D Barton, V O'Dwyer, D Neylan, H Nesbitt, NM Byrne, J Worthington, SR Mc Keown, DJ Mc Kenna, D Cosgrove, D Morris, D Harold, M Gill, A Corvin, G Donohoe, J Holland, D Morris, D Cosgrove, D Harold, O Mothershill, A Corvin, G Donohoe, SD Atkinson, EH Allen, JE Moore, DG Courtney, E Maurizi, MA Nesbit, WHI McLean, DM Leslie Pedrioli, CBT Moore, E Maurizi, D Courtney, SD Atkinson, JE Moore, MA Nesbit, CBT Moore, A Cole, S Cox, C Jeong, Y Droma, M Hanaoka, M Ota, P Gasparini, H Montgomery, A Di Rienzo, P Robbins, G L. Cavalleri, M McCormack, S Heavin, P Buckley, N Delanty, GL Cavalleri, RE Irwin, A Thakur, KM O’ Neill, CP Walsh, Paul Cummins, SJ Mackin, K O'Neill, C Walsh, E Maurizi, D Schiroli, MA Nesbit, JE Moore, SD Atkinson, CBT Moore, TP McVeigh, P Owens, R Mulligan, N Miller, F Sebag, D Quill, M Bell, AJ Lowery, JB Weidhaas, MJ Kerin, M Ozaki, AM Molloy, JL Mills, R Fan, Y Wang, ER Gibney, B Shane, LC Brody, A Parle-Mcdermott, ET O'Halloran, A Ebrahim, C Meydan, C Mason, TR Magalhães, S Ennis,

Aims The Irish DNA Atlas is a DNA collection being assembled with the aim of describing the fine-scale population structure in Ireland. Understanding such structure can inform on optimal design of clinical genetic studies as well as the history of the Irish population. We will present an overview of and ... Read more >>

Ulster Med J (The Ulster medical journal)
[2015, 84(3):200-214]

Cited: 0 times

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Dialysis and gel filtration of isolated low density lipoproteins do not cause a significant loss of low density lipoprotein tocopherol and carotenoid concentration.

M Chopra, P Fitzsimons, M Hopkins, D I Thurnham,

The resistance of isolated low density lipoprotein (LDL) to copper-initiated oxidation is often used as a measure of effectiveness of an antioxidant intervention. Prior to oxidation, excess salt and EDTA are removed via dialysis or gel filtration of the LDL sample. However, there is concern over whether the antioxidant content ... Read more >>

Lipids (Lipids)
[2001, 36(2):205-209]

Cited: 3 times

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Nonalcoholic red wine extract and quercetin inhibit LDL oxidation without affecting plasma antioxidant vitamin and carotenoid concentrations.

M Chopra, P E Fitzsimons, J J Strain, D I Thurnham, A N Howard,

BACKGROUND:Antioxidant enrichment of LDL can increase its resistance to oxidation and hence reduce its atherogenicity. The objective of the present study was to investigate whether in vivo supplementation with nonalcoholic red wine extract and quercetin can increase the oxidative resistance of LDL, and also whether the supplementation has any effect ... Read more >>

Clin. Chem. (Clinical chemistry)
[2000, 46(8 Pt 1):1162-1170]

Cited: 40 times

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Nursing in turmoil: nurse managers redefine their roles and responsibilities.

Numerof, Abrams, Fitzsimons,

Strateg Healthc Excell (Strategies for healthcare excellence : organizational productivity, quality and effectiveness)
[2000, 13(1):8-12]

Cited: 0 times

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Percutaneous drainage of iliopsoas abscess in Crohn's disease.

S F Millward, W Ramsewak, P Fitzsimons, R Frost, P Tam, A Toi,

Iliopsoas abscess is a rare but serious complication of Crohn's disease. Initial treatment by surgical drainage of the abscess alone or in combination with bowel resection has been recommended. Percutaneous catheter abscess drainage (PAD) has not been described. We report 3 patients with this uncommon complication of Crohn's disease in ... Read more >>

Gastrointest Radiol (Gastrointestinal radiology)
[1986, 11(3):289-290]

Cited: 4 times

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The use of ultrasound in the confirmation and evaluation of abdominal aortic aneurysms.

Fitzsimons, Nolan, Bouchier-Hayes, Tanner, Carr,

Ir Med J (Irish medical journal)
[1985, 78(7):185-187]

Cited: 1 time

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A comparison of Golytely and standard preparation for barium enema.

P Fitzsimons, P Shorvon, R A Frost, G W Stevenson,

A randomized prospective trial was performed comparing Golytely (with bisacodyl) with our standard two-day catharsis and bowel washout regimen as colon preparation for double-contrast barium enema examinations. Of the 107 patients who participated, 50 received the standard preparation and 57 Golytely. Two radiologists reviewed the enema films without knowledge of ... Read more >>

Can Assoc Radiol J (Canadian Association of Radiologists journal = Journal l'Association canadienne des radiologistes)
[1987, 38(2):109-112]

Cited: 2 times

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Ultrasound examination in the diagnosis of popliteal artery aneurysms.

S W MacGowan, M F Saif, G O'Neill, P Fitzsimons, D Bouchier-Hayes,

Popliteal artery aneurysm is a potentially limb-threating lesion which is frequently difficult to diagnose by clinical examination or angiography. The risk of limb loss can best be reduced by early diagnosis. Over the past 5 years we have prospectively evaluated ultrasound examination of the popliteal space in screening patients with ... Read more >>

Br J Surg (The British journal of surgery)
[1985, 72(7):528-529]

Cited: 12 times

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Ultrasound used to detect a stone in the vesico-ureteric junction during pregnancy.

Rubin, Fitzsimons,

Br J Radiol (The British journal of radiology)
[1986, 59(706):1044-1045]

Cited: 0 times

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Prenatal and immediate postnatal ultrasonographic diagnosis of ureterocele.

P J Fitzsimons, R A Frost, S Millward, J DeMaria, A Toi,

We report three patients in whom hydronephrosis was diagnosed by ultrasonography in utero. In two fetuses, ureteroceles were detected prenatally and these proved to be the cause of obstruction. In the third, bilateral simple ureteroceles were discovered immediately after birth. In the last patient, failure to see ureteroceles in utero ... Read more >>

Can Assoc Radiol J (Canadian Association of Radiologists journal = Journal l'Association canadienne des radiologistes)
[1986, 37(3):189-191]

Cited: 0 times

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The value of ultrasonography in the screening for asymptomatic abdominal aortic aneurysm.

Ohman, Fitzsimons, Butler, Bouchier-Hayes,

Ir Med J (Irish medical journal)
[1985, 78(5):127-129]

Cited: 2 times

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The primary processes of photosystem II in purified guard-cell protoplasts and mesophyll-cell protoplasts from Commelina communis L.

M F Hipkins, P J Fitzsimons, J D Weyers,

Guard-cell protoplasts were isolated by enzymic digestion of the epidermis peeled from the abaxial surface of leaves from Commelina communis L. The protoplasts were separated from mesophyll-cell protoplasts and other contaminants by density-gradient centrifugation, and the purity of the preparations carefully and quantitatively assessed by light microscopy. The preparations of ... Read more >>

Planta (Planta)
[1983, 159(6):554-560]

Cited: 4 times

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National Association of Theatre Nurses: small beginnings.

Fitzsimons,

Nurs Mirror (Nursing mirror)
[1980, 151(15):viii-ix]

Cited: 0 times

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