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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Clinical and genetic characterisation of infantile liver failure syndrome type 1, due to recessive mutations in LARS von Casey, Jillian P., Slattery, Suzanne, Cotter, Melanie, Monavari, A. A., Knerr, Ina, Hughes, Joanne, Treacy, Eileen P., Devaney, Deirdre, McDermott, Michael, Laffan, Eoghan, Wong, Derek, Lynch, Sally Ann, Bourke, Billy, Crushell, Ellen

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An approach to recognising and identifying metabolic presentations in the paediatric Irish Traveller population von Forman, E. B., Lynch, S. A., Knerr, I., Monavari, A., Hughes, J., Boruah, R., Green, A., Crushell, E.

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Medium Chain Acyl-CoA Dehydrogenase Deficiency: 3 years of Newborn Screening von Howard, C, Gorman, I, Crushell, E, Knerr, I, Hughes, J, Boruah, R, O'Grady, L, Elsammak, M Y, Brady, J J, Monavari, A A

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A review of anaesthetic outcomes in patients with genetically confirmed mitochondrial disorders von Smith, A., Dunne, E., Mannion, M., O’Connor, C., Knerr, I., Monavari, A. A., Hughes, J., Eustace, N., Crushell, E.

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Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCADD) in the Irish Paediatric Population von Mesbah, Z, Sing Ho, K, Fitzsimons, P, Monavari, A A, Crushell, E, Mayne, P D

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Pregnancy management and outcome in patients with four different tetrahydrobiopterin disorders von Kuseyri, O., Weissbach, A., Bruggemann, N., Klein, C., Giżewska, M., Karall, D., Scholl-Bürgi, S., Romanowska, H., Krzywińska-Zdeb, E., Monavari, A. A., Knerr, I., Yapıcı, Z., Leuzzi, V., Opladen, T.

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Prevention of cerebral palsy in glutaric aciduria type 1 by dietary management von Monavari, A A, Naughten, E R

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Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCADD) in the Irish Paediatric Population von Mesbah, Z, Sing Ho, K, Fitzsimons, P, Monavari, A A, Mayne, P D, Crushell, E

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Hyperammonaemia in Neonates and Young Children: Potential Metabolic Causes, Diagnostic Approaches and Clinical Consequences von Giva, S, Finnegan, J, Ihidero, P, Maguire, G, Power, B, Knerr, I, Monavari, 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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Glutaric aciduria type I: Outcome in the Republic of Ireland von Naughten, E. R., Mayne, P. D., Monavari, A. A., Goodman, S. I., Sulaiman, G., Croke, D. T.

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Rotavirus Gastroenteritis is Associated with Increased Morbidity and Mortality in Children with Inherited Metabolic Disorders von Smith, A, Mannion, M, O'Reilly, P, Crushell, E, Hughes, J, Knerr, I, Gavin, P, Monavari, A

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Maple syrup urine disease: Clinical outcomes, metabolic control, and genotypes in a screened population after four decades of newborn bloodspot screening in the Republic of Ireland von O'Reilly, Daniel, Crushell, Ellen, Hughes, Joanne, Ryan, Stephanie, Rogers, Yvonne, Borovickova, Ingrid, Mayne, Philip, Riordan, Michael, Awan, Atif, Carson, Kevin, Hunter, Kim, Lynch, Bryan, Shahwan, Amre, Rüfenacht, Véronique, Häberle, Johannes, Treacy, Eileen P., Monavari, Ahmad A., Knerr, Ina

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β-Ureidopropionase deficiency due to novel and rare UPB1 mutations affecting pre-mRNA splicing and protein structural integrity and catalytic activity von Dobritzsch, Doreen, Meijer, Judith, Meinsma, Rutger, Maurer, Dirk, Monavari, Ardeshir A., Gummesson, Anders, Reims, Annika, Cayuela, Jorge A., Kuklina, Natalia, Benoist, Jean-François, Perrin, Laurence, Assmann, Birgit, Hoffmann, Georg F., Bierau, Jörgen, Kaindl, Angela M., van Kuilenburg, André B.P.

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Clinical Course, Early Diagnosis, Treatment, and Prevention of Disease in Glutaryl-CoA Dehydrogenase Deficiency von Hoffmann, G. F., Athanassopoulos, S., Burlina, A. B., Duran, M., Klerk, J. B., Lehnert, W., Leonard, J. V., Monavari, A. A., Müller, E., Muntau, A. C., Naughten, E. R., Plecko-Starting, B., Superti-Furga, A., Zschocke, J., Christensen, E.

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'Malignant Phenylketonuria' (PKU) Due to Dihydropteridine Reductase (DHPR) Deficiency von Ventzke, A, Hoffmann, J, Crushell, E, Monavari, A, Mayne, P D, Knerr, I

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Monocarboxylate Transporter 1 Deficiency and Ketone Utilization von van Hasselt, Peter M, Ferdinandusse, Sacha, Monroe, Glen R, Ruiter, Jos P.N, Turkenburg, Marjolein, Geerlings, Maartje J, Duran, Karen, Harakalova, Magdalena, van der Zwaag, Bert, Monavari, Ardeshir A, Okur, Ilyas, Sharrard, Mark J, Cleary, Maureen, O’Connell, Nuala, Walker, Valerie, Rubio-Gozalbo, M. Estela, de Vries, Maaike C, Visser, Gepke, Houwen, Roderick H.J, van der Smagt, Jasper J, Verhoeven-Duif, Nanda M, Wanders, Ronald J.A, van Haaften, Gijs

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A recurrent mitochondrial p.Trp22Arg NDUFB3 variant causes a distinctive facial appearance, short stature and a mild biochemical and clinical phenotype von Alston, Charlotte L, Howard, Caoimhe, Oláhová, Monika, Hardy, Steven A, He, Langping, Murray, Philip G, O'Sullivan, Siobhan, Doherty, Gary, Shield, Julian P H, Hargreaves, Iain P, Monavari, Ardeshir A, Knerr, Ina, McCarthy, Peter, Morris, Andrew A M, Thorburn, David R, Prokisch, Holger, Clayton, Peter E, McFarland, Robert, Hughes, Joanne, Crushell, Ellen, Taylor, Robert W

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N-Glycan Abnormalities in Children with Galactosemia von Coss, Karen P, Hawkes, Colin P, Adamczyk, Barbara, Stöckmann, Henning, Crushell, Ellen, Saldova, Radka, Knerr, Ina, Rubio-Gozalbo, Maria E, Monavari, Ardeshir A, Rudd, Pauline M, Treacy, Eileen P

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