Designing rare disease care pathways in the Republic of Ireland: a co-operative model
Ward, A J, Murphy, D, Marron, R, McGrath, V, Bolz-Johnson, M, Cullen, W, Daly, A, Hardiman, O, Lawlor, A, Lynch, S A, MacLachlan, M, McBrien, J, Ni Bhriain, S, O'Byrne, J J, O'Connell, S M, Turner, J, Treacy, E P
Published in Orphanet journal of rare diseases (11.04.2022)
Published in Orphanet journal of rare diseases (11.04.2022)
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Journal Article
Reversible infantile respiratory chain deficiency is a unique, genetically heterogenous mitochondrial disease
Uusimaa, J, Jungbluth, H, Fratter, C, Crisponi, G, Feng, L, Zeviani, M, Hughes, I, Treacy, E P, Birks, J, Brown, G K, Sewry, C A, McDermott, M, Muntoni, F, Poulton, J
Published in Journal of medical genetics (01.10.2011)
Published in Journal of medical genetics (01.10.2011)
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Journal Article
The natural history of classic galactosemia: lessons from the GalNet registry
Rubio-Gozalbo, M E, Haskovic, M, Bosch, A M, Burnyte, B, Coelho, A I, Cassiman, D, Couce, M L, Dawson, C, Demirbas, D, Derks, T, Eyskens, F, Forga, M T, Grunewald, S, Häberle, J, Hochuli, M, Hubert, A, Huidekoper, H H, Janeiro, P, Kotzka, J, Knerr, I, Labrune, P, Landau, Y E, Langendonk, J G, Möslinger, D, Müller-Wieland, D, Murphy, E, Õunap, K, Ramadza, D, Rivera, I A, Scholl-Buergi, S, Stepien, K M, Thijs, A, Tran, C, Vara, R, Visser, G, Vos, R, de Vries, M, Waisbren, S E, Welsink-Karssies, M M, Wortmann, S B, Gautschi, M, Treacy, E P, Berry, G T
Published in Orphanet journal of rare diseases (27.04.2019)
Published in Orphanet journal of rare diseases (27.04.2019)
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Journal Article
Classical Galactosaemia in Ireland: incidence, complications and outcomes of treatment
Coss, K. P., Doran, P. P., Owoeye, C., Codd, M. B., Hamid, N., Mayne, P. D., Crushell, E., Knerr, I., Monavari, A. A., Treacy, E. P.
Published in Journal of inherited metabolic disease (2013)
Published in Journal of inherited metabolic disease (2013)
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Journal Article
The galactosemia network (GalNet)
Rubio-Gozalbo, M. E., Bosch, A. M., Burlina, A., Berry, G. T., Treacy, E. P.
Published in Journal of inherited metabolic disease (01.03.2017)
Published in Journal of inherited metabolic disease (01.03.2017)
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Journal Article
Mutations of the Flavin-Containing Monooxygenase Gene (FMO3) cause Trimethylaminuria, a Defect in Detoxication
Treacy, E. P., Akerman, B. R., Chow, L. M. L., Youil, R., Lin, C. Bibeau, J., Bruce, A. G., Knight, M., Danks, D. M., Cashman, J. R., Forrest, S. M.
Published in Human molecular genetics (01.05.1998)
Published in Human molecular genetics (01.05.1998)
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Journal Article
Systemic gene dysregulation in classical Galactosaemia: Is there a central mechanism?
Coss, K.P., Treacy, E.P., Cotter, E.J., Knerr, I., Murray, D.W., Shin, Y.S., Doran, P.P.
Published in Molecular genetics and metabolism (01.11.2014)
Published in Molecular genetics and metabolism (01.11.2014)
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Journal Article
IgG N-glycans as potential biomarkers for determining galactose tolerance in Classical Galactosaemia
Coss, K.P., Byrne, J.C., Coman, D.J., Adamczyk, B., Abrahams, J.L., Saldova, R., Brown, A.Y., Walsh, O., Hendroff, U., Carolan, C., Rudd, P.M., Treacy, E.P.
Published in Molecular genetics and metabolism (01.02.2012)
Published in Molecular genetics and metabolism (01.02.2012)
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Journal Article
Incidence and prevalence of mucopolysaccharidosis type 1 in the Irish republic
Murphy, A M, Lambert, D, Treacy, E P, O’Meara, A, Lynch, S A
Published in Archives of disease in childhood (01.01.2009)
Published in Archives of disease in childhood (01.01.2009)
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Journal Article
Unexplained developmental delay/learning disability: guidelines for best practice protocol for first line assessment and genetic/metabolic/radiological investigations
O’Byrne, J. J., Lynch, S. A., Treacy, E. P., King, M. D., Betts, D. R., Mayne, P. D., Sharif, F.
Published in Irish journal of medical science (01.02.2016)
Published in Irish journal of medical science (01.02.2016)
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Journal Article
Should children with inherited metabolic disorders receive varicella vaccination?
Varghese, M, Cafferkey, M, O'Regan, M, Monavari, A A, Treacy, E P
Published in Archives of disease in childhood (01.01.2011)
Published in Archives of disease in childhood (01.01.2011)
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Journal Article
Coats' plus: a progressive familial syndrome of bilateral Coats' disease, characteristic cerebral calcification, leukoencephalopathy, slow pre- and post-natal linear growth and defects of bone marrow and integument
Crow, Y J, McMenamin, J, Haenggeli, C A, Hadley, D M, Tirupathi, S, Treacy, E P, Zuberi, S M, Browne, B H, Tolmie, J L, Stephenson, J B P
Published in Neuropediatrics (01.02.2004)
Published in Neuropediatrics (01.02.2004)
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Journal Article
Negative screening tests in classical galactosaemia caused by S135L homozygosity
Crushell, E, Chukwu, J, Mayne, P, Blatny, J, Treacy, E. P
Published in Journal of inherited metabolic disease (01.06.2009)
Published in Journal of inherited metabolic disease (01.06.2009)
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Journal Article
G86(P) Clinical Phenotype associated with recessive mutations in LARS gene
Slattery, S, Casey, J, Lynam-Lennon, N, Mc Gettigan, P, O’Sullivan, J, Mc Dermott, M, Forde, K, Knerr, I, Treacy, E, Monavari, AA, Hughes, J, Bourke, B, Ennis, S, Lynch, SA, Cotter, M, Crushell, E
Published in Archives of disease in childhood (01.04.2014)
Published in Archives of disease in childhood (01.04.2014)
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Journal Article
Further pitfalls in the diagnosis of mtDNA mutations: homoplasmic mt-tRNA mutations
Tuppen, H A L, Fattori, F, Carrozzo, R, Zeviani, M, DiMauro, S, Seneca, S, Martindale, J E, Olpin, S E, Treacy, E P, McFarland, R, Santorelli, F M, Taylor, R W
Published in Journal of medical genetics (01.01.2008)
Published in Journal of medical genetics (01.01.2008)
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Journal Article
Hereditary metabolic diseases (HMDs) in adult practice in Ireland: a preliminary assessment
Morrissey, L., Tiernan, C. A., Lambert, D., O’Reilly, E., Treacy, E. P.
Published in Irish journal of medical science (01.12.2013)
Published in Irish journal of medical science (01.12.2013)
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Journal Article
Profound neurological presentation resulting from homozygosity for a mild glutaryl‐CoA dehydrogenase mutation with a minimal biochemical phenotype
Treacy, E. P., Lee‐Chong, A., Roche, G., Lynch, B., Ryan, S., Goodman, S.
Published in Journal of inherited metabolic disease (01.07.2003)
Published in Journal of inherited metabolic disease (01.07.2003)
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Journal Article
Sensory-motor polyneuropathy occurring in variant maple syrup urine disease
Harty, S., King, M. D., McCoy, B., Costigan, D., Treacy, E. P.
Published in Journal of inherited metabolic disease (01.12.2008)
Published in Journal of inherited metabolic disease (01.12.2008)
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