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 Article | Year Published | Journal | Authors |
|---|---|---|---|
| Pregnancy management and outcome in patients with four different tetrahydrobiopterin disorders | 2018 | Journal of Inherited Metabolic Disorders | O. 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 population | 2018 | Journal of Medical Genetics | S.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. | 2018 | American Journal of Medical Genetics | Fitzsimons 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. | 2018 | Journal 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. | 2017 | Journal of Nutrition and Metabolism | O. 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. | 2017 | Archives of diseases in childhood | A. 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. | 2017 | European Journal of Pediatrics | A. 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. | 2016 | Journal of Medical Genetics | Alston 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. | 2016 | Journal of Inherited Metabolic Disorders | Morris 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. | 2016 | Nature Communications | Jansen 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 Galactosaemia | 2016 | JIMD Reports | Neville S, O'Sullivan S, Sweeney B, Lynch B, Hanrahan D, Knerr I, Lynch SA, Crushell E. |
| IgG N-glycan abnormalities in children with Galactosaemia | 2014 | Journal of Proteome Research | Coss 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 galactosaemia | 2013 | Journal of Inherited Metabolic Disorders | I. 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 treatment | 2013 | Journal of Inherited Metabolic Disorders | Coss 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. | 2013 | Diabetes | De Franco E, Shaw-Smith C, Flanagan SE, Shepherd MH; International NDM Consortium incl. Knerr I, Hattersley AT, Ellard S. |