Fertility in classical galactosaemia, a study of N-glycan, hormonal and inflammatory gene interactions.

Autor: Colhoun HO; Department of Paediatrics, Trinity College, Dublin, Ireland., Rubio Gozalbo EM; Department of Pediatrics and Department of Clinical Genetics, Maastricht University Medical Centre, P. Debyelaan 25, PO Box 5800, 6202, AZ, Maastricht, The Netherlands., Bosch AM; Department of Pediatrics, Division of Metabolic Disorders, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands., Knerr I; National Centre for Inherited Metabolic Disorders, Temple Street Children's University Hospital and Mater Misericordiae University Hospital, Dublin, Ireland., Dawson C; Department of Endocrinology, University Hospitals Birmingham NHS Foundation Trust, B15 2TH, Birmingham, UK., Brady J; Department of Clinical Biochemistry and Diagnostic Endocrinology, The Mater Misericordiae University Hospital, Dublin, Ireland., Galligan M; University College Dublin, Belfield, Dublin 4, Ireland., Stepien K; Mark Holland Metabolic Unit, Salford Royal NHS Foundation Trust, M6 8HD, Manchester, UK., O'Flaherty R; NIBRT GlycoScience Group, National Institute for Bioprocessing, Research and Training, Mount Merrion, Blackrock, Co, Dublin, Ireland., Catherine Moss C; Core Genomics Facility, Conway Institute, University College, Dublin, Ireland., Peter Barker P; Core Biochemical Assay Laboratory (CBAL), Clinical Biochemistry, Box 232, Cambridge University Hospitals NHS Foundation Trust, Cambridge Biomedical Campus, Hills Road, Cambridge, CB2 0QQ, UK., Fitzgibbon M; Department of Clinical Biochemistry and Diagnostic Endocrinology, The Mater Misericordiae University Hospital, Dublin, Ireland., Doran PP; University College Dublin, Belfield, Dublin 4, Ireland., Treacy EP; Department of Paediatrics, Trinity College, Dublin, Ireland. etreacy@mater.ie.; National Centre for Inherited Metabolic Disorders, Temple Street Children's University Hospital and Mater Misericordiae University Hospital, Dublin, Ireland. etreacy@mater.ie.; National Centre for Inherited Metabolic Diseases, The Mater Misericordiae University Hospital, Eccles St, Dublin, 7, Ireland. etreacy@mater.ie.

Publikováno v: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2018 Sep 19; Vol. 13 (1), pp. 164. Date of Electronic Publication: 2018 Sep 19.

Systematic Review and Meta-analysis of Intelligence Quotient in Early-Treated Individuals with Classical Galactosemia.

Autor: Welling L; Department of Pediatrics, Division of Metabolic Disorders, Academic Medical Center, University Hospital of Amsterdam, Amsterdam, The Netherlands., Waisbren SE; Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA., Antshel KM; Department of Psychology, Syracuse University, Syracuse, USA., Colhoun HO; Department of Paediatrics, Trinity College, Dublin, Ireland., Gautschi M; University Children's Hospital, Pediatric Endocrinology, Diabetes and Metabolism, and Institute of Clinical Chemistry, Inselspital, University of Bern, Bern, Switzerland., Grünewald S; Metabolic Unit, Great Ormond Street Hospital and Institute of Child Health, University College London, NHS Trust, London, UK., Holman R; Clinical Research Unit, Academic Medical Center, Amsterdam, The Netherlands., van der Lee JH; Pediatric Clinical Research Office, Emma Children's Hospital, Academic Medical Center, Amsterdam, The Netherlands., Treacy EP; National Centre for Inherited Metabolic Disorders, Temple St. Children's University Hospital and Mater Misericordiae University Hospital, Dublin, Ireland., Bosch AM; Department of Pediatrics, Division of Metabolic Disorders, Academic Medical Center, University Hospital of Amsterdam, Amsterdam, The Netherlands. a.m.bosch@amc.uva.nl.

Publikováno v: JIMD reports [JIMD Rep] 2017; Vol. 37, pp. 115-123. Date of Electronic Publication: 2017 Apr 09.

Classical galactosaemia: novel insights in IgG N-glycosylation and N-glycan biosynthesis.

Autor: Maratha A; National Centre for Inherited Metabolic Disorders, Children's University Hospital, Dublin, Ireland., Stockmann H; Glycoscience Group, National Institute for Bioprocessing Research and Training (NIBRT), Mount Merrion, Blackrock, Dublin University College, Dublin, Ireland., Coss KP; Department of Infectious Diseases, King's College London, Faculty of Life Sciences and Medicine, Guy's Hospital, London, UK., Estela Rubio-Gozalbo M; Department of Paediatrics and Laboratory of Genetic Metabolic Diseases, Maastricht University Medical Centre, Maastricht, The Netherlands., Knerr I; National Centre for Inherited Metabolic Disorders, Children's University Hospital, Dublin, Ireland., Fitzgibbon M; National Centre for Inherited Metabolic Diseases, Misericordiae University Hospital, Dublin, Ireland., McVeigh TP; National Centre for Inherited Metabolic Diseases, Misericordiae University Hospital, Dublin, Ireland., Foley P; National Centre for Inherited Metabolic Disorders, Children's University Hospital, Dublin, Ireland., Moss C; Core Genomics Facility, Conway Institute, University College, Dublin, Ireland., Colhoun HO; Department of Paediatrics, Trinity College, Dublin, Ireland., van Erven B; Department of Paediatrics and Laboratory of Genetic Metabolic Diseases, Maastricht University Medical Centre, Maastricht, The Netherlands., Stephens K; University College Dublin Clinical Research Centre, Dublin Academic Medical Centre, Dublin, Ireland., Doran P; University College Dublin Clinical Research Centre, Dublin Academic Medical Centre, Dublin, Ireland., Rudd P; Glycoscience Group, National Institute for Bioprocessing Research and Training (NIBRT), Mount Merrion, Blackrock, Dublin University College, Dublin, Ireland., Treacy E; National Centre for Inherited Metabolic Disorders, Children's University Hospital, Dublin, Ireland.; National Centre for Inherited Metabolic Diseases, Misericordiae University Hospital, Dublin, Ireland.; Department of Paediatrics, Trinity College, Dublin, Ireland.; University College Dublin Clinical Research Centre, Dublin Academic Medical Centre, Dublin, Ireland.

Publikováno v: European journal of human genetics : EJHG [Eur J Hum Genet] 2016 Jul; Vol. 24 (7), pp. 976-84. Date of Electronic Publication: 2016 Jan 06.