Designing rare disease care pathways in the Republic of Ireland: a co-operative model von 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

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The natural history of classic galactosemia: lessons from the GalNet registry von 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

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Reversible infantile respiratory chain deficiency is a unique, genetically heterogenous mitochondrial disease von 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

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Classical Galactosaemia in Ireland: incidence, complications and outcomes of treatment von 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.

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Mutations of the Flavin-Containing Monooxygenase Gene (FMO3) cause Trimethylaminuria, a Defect in Detoxication von 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.

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Systemic gene dysregulation in classical Galactosaemia: Is there a central mechanism? von Coss, K.P., Treacy, E.P., Cotter, E.J., Knerr, I., Murray, D.W., Shin, Y.S., Doran, P.P.

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The galactosemia network (GalNet) von Rubio-Gozalbo, M. E., Bosch, A. M., Burlina, A., Berry, G. T., Treacy, E. P.

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IgG N-glycans as potential biomarkers for determining galactose tolerance in Classical Galactosaemia von 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.

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Incidence and prevalence of mucopolysaccharidosis type 1 in the Irish republic von Murphy, A M, Lambert, D, Treacy, E P, O’Meara, A, Lynch, S A

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Should children with inherited metabolic disorders receive varicella vaccination? von Varghese, M, Cafferkey, M, O'Regan, M, Monavari, A A, Treacy, E P

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Coats' Plus: A Progressive Familial Syndrome of Bilateral Coats' Disease, Characteristic Cerebral Calcification, Leukoencephalopathy, Slow Pre- and Post-Natal Linear Growth and Def... von 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.

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Negative screening tests in classical galactosaemia caused by S135L homozygosity von Crushell, E, Chukwu, J, Mayne, P, Blatny, J, Treacy, E. P

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G86(P) Clinical Phenotype associated with recessive mutations in LARS gene von 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

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A comparative study of the durability and behaviour of fat lime and feebly-hydraulic lime mortars von Pavía, S., Treacy, E.

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Further pitfalls in the diagnosis of mtDNA mutations: homoplasmic mt-tRNA mutations von 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

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Early Medical Abortion - Education and Training Experiences von McAuliffe, E, O'Keeffe, D, Treacy, E, Lambe, P, Favier, M, Horgan, P

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Profound neurological presentation resulting from homozygosity for a mild glutaryl‐CoA dehydrogenase mutation with a minimal biochemical phenotype von Treacy, E. P., Lee‐Chong, A., Roche, G., Lynch, B., Ryan, S., Goodman, S.

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Fatal presentation of ornithine transcarbamylase deficiency in a 62‐year‐old man and family studies von Rohininath, T., Costello, D. J., Lynch, T., Monavari, A., Tuchman, M., Treacy, E. P.

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Sensory-motor polyneuropathy occurring in variant maple syrup urine disease von Harty, S., King, M. D., McCoy, B., Costigan, D., Treacy, E. P.

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21 Cardiac investigations in adult inborn error of metabolism cohort von James, S, Sheerin, A, Grabowsky, L, Senanayake, S, Abidin, Z, O’Byrne, J, Treacy, E, Pastores, G

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