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Journal of Inherited Metabolic Disease|December 10, 2020
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 IrelandDaniel O'Reilly, Ellen Crushell, Joanne Hughes, et al.Irish Journal of Medical Science|January 15, 2020
The role of primary care in management of rare diseases in IrelandNiall Byrne, Jacqueline Turner, Rita Marron, et al.Molecular Genetics and Metabolism|January 20, 2020
The Galactose Index measured in fibroblasts of GALT deficient patients distinguishes variant patients detected by newborn screening from patients with classical phenotypesMendy M Welsink-Karssies, Michel van Weeghel, Carla E M Hollak, et al.European Journal of Neurology|April 9, 2026
The Role of Digital Tools and Their Implementation Within Patient Care Pathways for Rare Brain Disorders: The Case of PhenylketonuriaSara Cannizzo, Vinciane Quoidbach, Bernadette Sheehan-Gilroy, et al.Journal of Inherited Metabolic Disease|June 10, 2019
Expanding the genetic and phenotypic spectrum of branched-chain amino acid transferase 2 deficiencyIna Knerr, Roberto Colombo, Jill Urquhart, et al.Orphanet Journal of Rare Diseases|April 25, 2012
Capturing phenotypic heterogeneity in MPS I: results of an international consensus procedureMinke H de Ru, Quirine Ga Teunissen, Johanna H van der Lee, et al.Brain Communications|September 21, 2020
Deep phenotyping classical galactosemia: clinical outcomes and biochemical markersMendy M Welsink-Karssies, Sacha Ferdinandusse, Gert J Geurtsen, et al.Journal of Inherited Metabolic Disease|November 19, 2016
International clinical guideline for the management of classical galactosemia: diagnosis, treatment, and follow-upLindsey Welling, Laurie E Bernstein, Gerard T Berry, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 19, 2020
Galactokinase deficiency: lessons from the GalNet registryM Estela Rubio-Gozalbo, Britt Derks, Anibh Martin Das, et al.Frontiers in Genetics|March 1, 2024
Brain function in classic galactosemia, a galactosemia network (GalNet) members reviewBianca Panis, E Naomi Vos, Ivo Barić, et al.Pageof 4