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Our Publications

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15 peer reviewed publications from 2019

Stepien KM, Geberhiwot T, Hendriksz CJ, Treacy EP., Challenges in diagnosing and managing adult patients with urea cycle disorders., Journal of inherited metabolic disease, 2019
Journal Article; Published; Peer Reviewed; Author Profile: EPTREACY; DOI

Rubio-Gozalbo ME, Haskovic M, Bosch AM, Burnyte B, Coelho AI, Cassiman D, Couce ML, Dawson C, Demirbas D, Derks T, Eyskens F, Forga MT, Grunewald S, Häberle J, Hochuli M, Hubert A, Huidekoper HH, Janeiro P, Kotzka J, Knerr I, Labrune P, Landau YE, Langendonk JG, Möslinger D, Müller-Wieland D, Murphy E, Õunap K, Ramadza D, Rivera IA, Scholl-Buergi S, Stepien KM, Thijs A, Tran C, Vara R, Visser G, Vos R, de Vries M, Waisbren SE, Welsink-Karssies MM, Wortmann SB, Gautschi M, Treacy EP, Berry GT., The natural history of classic galactosemia: lessons from the GalNet registry., Orphanet journal of rare diseases, 14, (1), 2019, p86
Journal Article; Published; Peer Reviewed; Author Profile: EPTREACY; DOI

Knerr I, Colombo R, Urquhart J, Morais A, Merinero B, Oyarzabal A, Pérez B, Jones SA, Perveen R, Preece MA, Rogers Y, Treacy EP, Mayne P, Zampino G, MacKinnon S, Wassmer E, Yue WW, Robinson I, Rodríguez-Pombo P, Olpin SE, Banka S., Expanding the genetic and phenotypic spectrum of branched-chain amino acid transferase 2 deficiency., Journal of inherited metabolic disease, 2019
Journal Article; Published; Peer Reviewed; Author Profile: EPTREACY; DOI

Stepien KM, Schmidt WM, Bittner RE, O'Toole O, McNamara B, Treacy EP., Long-term outcomes in a 25-year-old female affected with lipin-1 deficiency., JIMD reports, 46, (1), 2019, p4-10
Journal Article; Published; Peer Reviewed; Author Profile: EPTREACY; DOI

Clark A, Merrigan C, Crushell E, Hughes J, Knerr I, Monavari AA, Treacy E, Coughlan A., Ten-year retrospective review (2003-2013) of 56 inpatient admissions to stabilize elevated phenylalanine levels., JIMD reports, 46, (1), 2019, p70-74
Journal Article; Published; Peer Reviewed; Author Profile: EPTREACY; DOI

Walsh B, Fennessy P, Ni Mhuircheartaigh R, Snow A, McCarthy KF, McCaul CL, Accuracy of ultrasound in measurement of the pediatric cricothyroid membrane., Paediatric anaesthesia, 2019
Journal Article; Published; Peer Reviewed; Author Profile: ASNOW

L Whilta, V Veitch, K O'Halloran, F O'Riordan, E Murphy, D Coghlan, B El-Nazir, M Nadeem, G412(P) Influenza in children: is there a pattern of adverse outcomes and are inflammatory markers predictive?, Royal College of Paediatrics and Child Health, Abstracts of the RCPCH Conference and exhibition, Birmingham, Paediatrics, , 13-15 May 2019, Volume 104 , ( Suppl 2), 2019
Conference Paper; Published; Peer Reviewed; Author Profile: GADELSAM

L Whilta, V Veitch, K O'Halloran, F O'Riordan, E Murphy, D Coghlan, B Elnazir, M Nadeem, Influenza in Children: Is there a link with Medical Complications or Inflammatory Markers?, Ir Med J, 2019
Journal Article; Published; Peer Reviewed; Author Profile: ELNAZIRB

L Whilta, V Veitch, K O'Halloran, F O'Riordan, E Murphy, D Coghlan, B Elnazir, M Nadeem., Influenza in Children: Is there a link with Medical Complications or Inflammatory Markers?, Ir Med J, 2019
Journal Article; Published; Peer Reviewed; Author Profile: GADELSAM

Ffrench O'Carroll R, Feeley T, Crowe S, Doherty EM, Grief reactions and coping strategies of trainee doctors working in paediatric intensive care, British Journal of Anaesthesia, (3), 2019
Journal Article; Published; Peer Reviewed; Author Profile: SUCROWE; DOI

C Howard, WL Macken, A Connolly, M Keegan, D Coghlan, DW Webb, Percutaneous endoscopic gastrostomy for refractory epilepsy and medication refusal, Arch Dis Child, 2019
Journal Article; Published; Peer Reviewed; Author Profile: DCOGHLA; DOI

Balfe J, Curtis E, O"Neill C, Permanent Childhood Hearing Loss in Ireland: Diagnostic Yield from Aetiological Evaluation in a Paediatric Clinic, Irish medical journal, 2019
Journal Article; Published; Peer Reviewed; Author Profile: BALFEJ

Anne Clark; Christine Merrrigan; Ellen Crushell; Joanne Hughes; Ina Knerr; Ardeshir Monavari; Eileen Treacy; Aoife Coughlan., 10 Year Retrospective Review (2003-2013) of 56 Inpatient Admissions to Stabilise Elevated Phenylalanine Levels, Journal Of Inherited Metabolic Diseases Reports, 2019
Journal Article; In_press; Peer Reviewed; Author Profile: EPTREACY

Stepien KM, Schmidt WM, Bittner R, Treacy EP, Peripheral neuropathy as a complication of rhabdomyolysis in a 25 year old female with Lipin-1 deficiency, Journal Of Inherited Metabolic Diseases Reports, 2019
Journal Article; In_press; Peer Reviewed; Author Profile: EPTREACY

Crowe S, Difficult Social Circumstances, Anesthesiology, (Jan 22), 2019, ponline-
Journal Article; Published; Peer Reviewed; Author Profile: SUCROWE