Multi-omics in classical galactosemia: Evidence for the involvement of multiple metabolic pathways.

Autor: Hermans ME; Department of Pediatrics, Division of Metabolic Diseases, Amsterdam UMC location University of Amsterdam, Emma Children's Hospital, Amsterdam, The Netherlands.; Amsterdam Gastroenterology Endocrinology Metabolism, Inborn Errors of Metabolism, Amsterdam, The Netherlands., van Weeghel M; Amsterdam Gastroenterology Endocrinology Metabolism, Inborn Errors of Metabolism, Amsterdam, The Netherlands.; Department of Clinical Chemistry, Laboratory Genetic Metabolic Diseases, Emma Children's Hospital, Amsterdam UMC Location University of Amsterdam, Amsterdam, The Netherlands.; Core Facility Metabolomics, Amsterdam UMC location University of Amsterdam, Amsterdam, The Netherlands., Vaz FM; Department of Pediatrics, Division of Metabolic Diseases, Amsterdam UMC location University of Amsterdam, Emma Children's Hospital, Amsterdam, The Netherlands.; Amsterdam Gastroenterology Endocrinology Metabolism, Inborn Errors of Metabolism, Amsterdam, The Netherlands.; Department of Clinical Chemistry, Laboratory Genetic Metabolic Diseases, Emma Children's Hospital, Amsterdam UMC Location University of Amsterdam, Amsterdam, The Netherlands.; Core Facility Metabolomics, Amsterdam UMC location University of Amsterdam, Amsterdam, The Netherlands.; United for Metabolic Diseases, The Netherlands., Ferdinandusse S; Amsterdam Gastroenterology Endocrinology Metabolism, Inborn Errors of Metabolism, Amsterdam, The Netherlands.; Department of Clinical Chemistry, Laboratory Genetic Metabolic Diseases, Emma Children's Hospital, Amsterdam UMC Location University of Amsterdam, Amsterdam, The Netherlands., Hollak CEM; Department of Internal Medicine, Division of Endocrinology and Metabolism, Amsterdam UMC location University of Amsterdam, Amsterdam, The Netherlands., Huidekoper HH; Department of Pediatrics, Center for Lysosomal and Metabolic Diseases, Erasmus MC, University Medical Center, Rotterdam, The Netherlands., Janssen MCH; Department of Internal Medicine, Radboud University Medical Center, Nijmegen, The Netherlands., van Kuilenburg ABP; Amsterdam Gastroenterology Endocrinology Metabolism, Inborn Errors of Metabolism, Amsterdam, The Netherlands.; Department of Clinical Chemistry, Laboratory Genetic Metabolic Diseases, Emma Children's Hospital, Amsterdam UMC Location University of Amsterdam, Amsterdam, The Netherlands., Pras-Raves ML; Amsterdam Gastroenterology Endocrinology Metabolism, Inborn Errors of Metabolism, Amsterdam, The Netherlands.; Department of Clinical Chemistry, Laboratory Genetic Metabolic Diseases, Emma Children's Hospital, Amsterdam UMC Location University of Amsterdam, Amsterdam, The Netherlands.; Core Facility Metabolomics, Amsterdam UMC location University of Amsterdam, Amsterdam, The Netherlands.; Epidemiology and Data Science, Amsterdam UMC location University of Amsterdam, Amsterdam, The Netherlands., Wamelink MMC; Department of Clinical Chemistry, Metabolic Unit, Gastroenterology Endocrinology Metabolism, Amsterdam UMC Location Vrije Universiteit Amsterdam, Amsterdam, The Netherlands., Wanders RJA; Amsterdam Gastroenterology Endocrinology Metabolism, Inborn Errors of Metabolism, Amsterdam, The Netherlands.; Department of Clinical Chemistry, Laboratory Genetic Metabolic Diseases, Emma Children's Hospital, Amsterdam UMC Location University of Amsterdam, Amsterdam, The Netherlands., Welsink-Karssies MM; Department of Pediatrics, Division of Metabolic Diseases, Amsterdam UMC location University of Amsterdam, Emma Children's Hospital, Amsterdam, The Netherlands.; Amsterdam Gastroenterology Endocrinology Metabolism, Inborn Errors of Metabolism, Amsterdam, The Netherlands., Bosch AM; Department of Pediatrics, Division of Metabolic Diseases, Amsterdam UMC location University of Amsterdam, Emma Children's Hospital, Amsterdam, The Netherlands.; Amsterdam Gastroenterology Endocrinology Metabolism, Inborn Errors of Metabolism, Amsterdam, The Netherlands.

Publikováno v: Journal of inherited metabolic disease [J Inherit Metab Dis] 2022 Nov; Vol. 45 (6), pp. 1094-1105. Date of Electronic Publication: 2022 Aug 25.

Correction to: Classical galactosemia: neuropsychological and psychosocial functioning beyond intellectual abilities.

Autor: Welsink-Karssies MM; Department of Pediatrics, room H7-270, Amsterdam University Medical Centre, MC, PO BOX 22660, 1100 DD, Amsterdam, The Netherlands., Oostrom KJ; Psychosocial Department, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands., Hermans ME; Department of Medical Psychology, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands., Hollak CEM; Department of Internal Medicine, Division of Endocrinology and Metabolism, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands., Janssen MCH; Department of Internal Medicine, Radboud University Medical Center, Nijmegen, The Netherlands., Langendonk JG; Department of Internal Medicine, Center for Lysosomal and Metabolic Diseases, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands., Oussoren E; Department of Pediatrics, Center for Lysosomal and Metabolic Diseases, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands., Rubio Gozalbo ME; Department of Pediatrics and Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands., de Vries M; Department of Pediatrics, Radboud University Medical Center, Nijmegen, The Netherlands., Geurtsen GJ; Department of Medical Psychology, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands., Bosch AM; Department of Pediatrics, room H7-270, Amsterdam University Medical Centre, MC, PO BOX 22660, 1100 DD, Amsterdam, The Netherlands. a.m.bosch@amsterdamumc.nl.

Publikováno v: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2020 Sep 07; Vol. 15 (1), pp. 238. Date of Electronic Publication: 2020 Sep 07.

The Galactose Index measured in fibroblasts of GALT deficient patients distinguishes variant patients detected by newborn screening from patients with classical phenotypes.

Autor: Welsink-Karssies MM; Department of Pediatrics, Division of Metabolic Disorders, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands., van Weeghel M; Department of Clinical Chemistry, Laboratory Genetic Metabolic Diseases, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands; Core Facility Metabolomics, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands., Hollak CEM; Department of Internal Medicine, Division of Endocrinology and Metabolism, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands., Elfrink HL; Department of Clinical Chemistry, Laboratory Genetic Metabolic Diseases, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands; Core Facility Metabolomics, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands., Janssen MCH; Department of Internal Medicine, Radboud University Medical Center, Nijmegen, the Netherlands., Lai K; Department of Pediatrics, Division of Medical Genetics, University of Utah School of Medicine, United States., Langendonk JG; Department of Internal Medicine, Center for Lysosomal and Metabolic Diseases, Erasmus MC, University Medical Centre Rotterdam, Rotterdam, the Netherlands., Oussoren E; Department of Pediatrics, Center for Lysosomal and Metabolic Diseases, Erasmus MC, University Medical Center Rotterdam, Rotterdam, the Netherlands., Ruiter JPN; Department of Clinical Chemistry, Laboratory Genetic Metabolic Diseases, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands., Treacy EP; National Centre for Inherited Metabolic Disorders, The Mater Misericordiae University Hospital Dublin, Ireland., de Vries M; Department of Pediatrics, Radboud University Medical Center, Nijmegen, the Netherlands., Ferdinandusse S; Department of Clinical Chemistry, Laboratory Genetic Metabolic Diseases, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands., Bosch AM; Department of Pediatrics, Division of Metabolic Disorders, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands. Electronic address: a.m.bosch@amsterdamumc.nl.

Publikováno v: Molecular genetics and metabolism [Mol Genet Metab] 2020 Mar; Vol. 129 (3), pp. 171-176. Date of Electronic Publication: 2020 Jan 09.

Classical galactosemia: neuropsychological and psychosocial functioning beyond intellectual abilities.

Autor: Welsink-Karssies MM; Department of Pediatrics, room H7-270, Amsterdam University Medical Centre, MC, PO BOX 22660, 1100 DD, Amsterdam, The Netherlands., Oostrom KJ; Psychosocial Department, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands., Hermans ME; Department of Medical Psychology, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands., Hollak CEM; Department of Internal Medicine, Division of Endocrinology and Metabolism, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands., Janssen MCH; Department of Internal Medicine, Radboud University Medical Center, Nijmegen, The Netherlands., Langendonk JG; Department of Internal Medicine, Center for Lysosomal and Metabolic Diseases, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands., Oussoren E; Department of Pediatrics, Center for Lysosomal and Metabolic Diseases, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands., Rubio Gozalbo ME; Department of Pediatrics and Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands., de Vries M; Department of Pediatrics, Radboud University Medical Center, Nijmegen, The Netherlands., Geurtsen GJ; Department of Medical Psychology, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands., Bosch AM; Department of Pediatrics, room H7-270, Amsterdam University Medical Centre, MC, PO BOX 22660, 1100 DD, Amsterdam, The Netherlands. a.m.bosch@amsterdamumc.nl.

Publikováno v: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2020 Feb 07; Vol. 15 (1), pp. 42. Date of Electronic Publication: 2020 Feb 07.

Reducing complexity: explaining inborn errors of metabolism and their treatment to children and adolescents.

Autor: Zeltner NA; Division of Metabolism, University Children's Hospital Zurich, Zurich, Switzerland.; Department of Psychosomatics and Psychiatry, University Children's Hospital Zurich, Zurich, Switzerland.; Children's Research Center, Zurich, Switzerland.; Department of Psychology, Division of Child and Adolescent Health Psychology, University of Zurich, Zurich, Switzerland., Welsink-Karssies MM; Department of Pediatrics, Division of Metabolic Disorders, Emma Children's Hospital, Amsterdam UMC - location AMC, Amsterdam, The Netherlands., Landolt MA; Department of Psychosomatics and Psychiatry, University Children's Hospital Zurich, Zurich, Switzerland.; Children's Research Center, Zurich, Switzerland.; Department of Psychology, Division of Child and Adolescent Health Psychology, University of Zurich, Zurich, Switzerland., Bosshard-Bullinger D; Division of Metabolism, University Children's Hospital Zurich, Zurich, Switzerland.; Department of Psychosomatics and Psychiatry, University Children's Hospital Zurich, Zurich, Switzerland.; Children's Research Center, Zurich, Switzerland.; Department of Psychology, Division of Child and Adolescent Health Psychology, University of Zurich, Zurich, Switzerland., Keller F; Division of Metabolism, University Children's Hospital Zurich, Zurich, Switzerland.; Department of Psychosomatics and Psychiatry, University Children's Hospital Zurich, Zurich, Switzerland.; Children's Research Center, Zurich, Switzerland.; Department of Psychology, Division of Child and Adolescent Health Psychology, University of Zurich, Zurich, Switzerland., Bosch AM; Department of Pediatrics, Division of Metabolic Disorders, Emma Children's Hospital, Amsterdam UMC - location AMC, Amsterdam, The Netherlands., Groenendijk M; Stichting Stofwisselkracht, Haarlem, the Netherlands., Grünert SC; Department of General Pediatrics, Adolescent Medicine and Neonatology, Medical Center - University of Freiburg, Faculty of Medicine, Freiburg, Germany., Karall D; Clinic for Pediatrics, Medical University of Innsbruck, Innsbruck, Austria., Rettenbacher B; Weiberwirtschaft - Konzept und Gestaltung, Innsbruck, Austria., Scholl-Bürgi S; Clinic for Pediatrics, Medical University of Innsbruck, Innsbruck, Austria., Baumgartner MR; Division of Metabolism, University Children's Hospital Zurich, Zurich, Switzerland.; Children's Research Center, Zurich, Switzerland., Huemer M; Division of Metabolism, University Children's Hospital Zurich, Zurich, Switzerland. martina.huemer@kispi.uzh.ch.; Children's Research Center, Zurich, Switzerland. martina.huemer@kispi.uzh.ch.; Department of Paediatrics, Landeskrankenhaus Bregenz, Bregenz, Austria. martina.huemer@kispi.uzh.ch.

Publikováno v: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2019 Nov 08; Vol. 14 (1), pp. 248. Date of Electronic Publication: 2019 Nov 08.