The ISIMD publication section will aim to provide references for articles of interest and guidelines. Disclaimer: References are provided in the manner in which they are given to ISIMD.

Recent Guidelines

Title of ArticleYear PublishedJournalAuthors
Pregnancy management and outcome in patients with four different tetrahydrobiopterin disorders2018Journal of Inherited Metabolic DisordersO. Kuseyri, A. Weissbach, N. Bruggemann, C. Klein, M. Giżewska, D. Karall, S. Scholl-Bürgi, H. Romanowska, E. Krzywińska-Zdeb, A.A. Monavari, I. Knerr, Z.
Yapıcı, V. Leuzzi, T. Opladen
Catalogue of inherited disorders found among the Irish Traveler population2018Journal of Medical GeneticsS.A. Lynch, E. Crushell, D.M. Lambert, N. Byrne, K. Gorman, M.D. King, A. Green, S. O’Sullivan, F. Browne, J. Hughes, I. Knerr, A. A. Monavari, M. Cotter, V.P.M. McConnell, B. Kerr, S.A. Jones, C. Keenan, N. Murphy, D. Cody, S. Ennis, J. Turner, A.D. Irvine, J. Casey
Clinical, biochemical, and genetic features of four patients with short-chain enoyl-CoA hydratase (ECHS1) deficiency.2018American Journal of Medical GeneticsFitzsimons PE, Alston CL, Bonnen PE, Hughes J, Crushell E, Geraghty MT, Tetreault M, O'Reilly P, Twomey E, Sheikh Y, Walsh R, Waterham HR, Ferdinandusse S, Wanders RJA, Taylor RW, Pitt JJ, Mayne PD.
Human heterologous liver cells transiently improve hyperammonemia and ureagenesis in individuals with severe urea cycle disorders.2018Journal of Inherited Metabolic Disorders J. Meyburg, T. Opladen, U. Spiekerkötter, A. Schlune, J.P. Schenk, J. Schmidt, J. Weitz, J. Okun, F. Bürger, T.B. Omran, G. Abdoh, H. Al Rifai, A.A. Monavari, V. Konstantopoulou, S. Kölker, M. Yudkoff, G.F. Hoffmann.
Growth Patterns in the Irish Pyridoxine Nonresponsive Homocystinuria Population and the Influence of Metabolic Control and Protein Intake.2017Journal of Nutrition and MetabolismO. Purcell, A. Coughlan, T. Grant, J McNulty, A. Clark, D. Deverell, P. Mayne, J. Hughes, A.A. Monavari, I. Knerr, E. Crushell
Diagnosing childhood-onset inborn errors of metabolism by next-generation sequencing.2017Archives of diseases in childhoodA. Ghosh, H. Schlecht, L.E. Heptinstall, J.K. Bassett, E. Cartwright, S.S. Bhaskar, J. Urquhart, A. Broomfield, A.A. Morris, E. Jameson, B.C. Schwahn, J.H. Walter, S. Douzgou, H. Murphy, C. Hendriksz, R. Sharma, G. Wilcox, E. Crushell, A.A. Monavari, R. Martin, A. Doolan, S. Senniappan, S.C. Ramsden, S.A. Jones, S. Banka.
A review of anaesthetic outcomes in patients with genetically confirmed mitochondrial disorders.2017European Journal of PediatricsA. Smith, E. Dunne, M. Mannion, C. O’Connor, I. Knerr, A. A. Monavari, J. Hughes, N. Eustace, E. Crushell
A recurrent mitochondrial p.Trp22Arg NDUFB3 variant causes a distinctive facial appearance, short stature and a mild biochemical and clinical phenotype.2016Journal of Medical GeneticsAlston CL, Howard C, Oláhová M, Hardy SA, He L, Murray PG, O'Sullivan S, Doherty G, Shield JP, Hargreaves IP, Monavari AA, Knerr I, McCarthy P, Morris AA, Thorburn DR, Prokisch H, Clayton PE, McFarland R, Hughes J, Crushell E, Taylor RW.
Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency.2016Journal of Inherited Metabolic DisordersMorris AA, Kožich V, Santra S, Andria G, Ben-Omran TI, Chakrapani AB, Crushell E, Henderson MJ, Hochuli M, Huemer M, Janssen MC, Maillot F, Mayne PD, McNulty J, Morrison TM, Ogier H, O'Sullivan S, Pavlíková M, de Almeida IT, Terry A, Yap S, Blom HJ, Chapman KA.
ATP6AP1 deficiency causes an immunodeficiency with hepatopathy, cognitive impairment and abnormal protein glycosylation.2016Nature CommunicationsJansen EJ, Timal S, Ryan M, Ashikov A, van Scherpenzeel M, Graham LA, Mandel H, Hoischen A, Iancu TC, Raymond K, Steenbergen G, Gilissen C, Huijben K, van Bakel NH, Maeda Y, Rodenburg RJ, Adamowicz M, Crushell E, Koenen H, Adams D, Vodopiutz J, Greber-Platzer S, Müller T, Dueckers G, Morava E, Sykut-Cegielska J, Martens GJ, Wevers RA, Niehues T, Huynen MA, Veltman JA, Stevens TH, Lefeber DJ.
Friedreich Ataxia in Classical Galactosaemia2016JIMD ReportsNeville S, O'Sullivan S, Sweeney B, Lynch B, Hanrahan D, Knerr I, Lynch SA, Crushell E.
IgG N-glycan abnormalities in children with Galactosaemia2014Journal of Proteome ResearchCoss KP, Hawkes CP, Adamczyk B, Stockmann H, Crushell E, Saldova R, Knerr I, Monavari AA, Rudd PM and Treacy EP.
Leptin levels in children and adults with classic galactosaemia2013Journal of Inherited Metabolic DisordersI. Knerr, K.P. Coss, P.P. Doran, J. Hughes, N. Wareham, K. Burling, E.P. Treacy
Classical Galactosaemia in Ireland: incidence, complications and outcomes of treatment2013Journal of Inherited Metabolic DisordersCoss KP, Doran PP, Owoeye C, Codd MB, Hamid N, Mayne PD, Crushell E, Knerr I, A.A. Monavari, E.P. Treacy
GATA6 mutations cause a broad phenotypic spectrum of diabetes from pancreatic agenesis to adult-onset diabetes without exocrine insufficiency.2013DiabetesDe Franco E, Shaw-Smith C, Flanagan SE, Shepherd MH; International NDM Consortium incl. Knerr I, Hattersley AT, Ellard S.