Novel mRNA therapy restores GALT protein and enzyme activity in a zebrafish model of classic galactosemia.

Autor: Delnoy B; Department of Pediatrics, Maastricht University Medical Center+, Maastricht, the Netherlands.; GROW, Maastricht University, Maastricht, the Netherlands., Haskovic M; Department of Pediatrics, Maastricht University Medical Center+, Maastricht, the Netherlands.; GROW, Maastricht University, Maastricht, the Netherlands., Vanoevelen J; GROW, Maastricht University, Maastricht, the Netherlands.; Department of Clinical Genetics, Maastricht University Medical Center+, Maastricht, the Netherlands., Steinbusch LKM; Department of Clinical Genetics, Maastricht University Medical Center+, Maastricht, the Netherlands., Vos EN; Department of Pediatrics, Maastricht University Medical Center+, Maastricht, the Netherlands., Knoops K; Microscopy CORE Laboratory, Maastricht University, Maastricht, the Netherlands., Zimmermann LJI; Department of Pediatrics, Maastricht University Medical Center+, Maastricht, the Netherlands.; GROW, Maastricht University, Maastricht, the Netherlands., Noga M; Translational Metabolic Laboratory, Radboud University Medical Center, Nijmegen, the Netherlands., Lefeber DJ; Translational Metabolic Laboratory, Radboud University Medical Center, Nijmegen, the Netherlands.; Department of Neurology, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, the Netherlands., Martini PGV; Moderna Inc., Cambridge, Massachusetts, USA., Coelho AI; Department of Pediatrics, Maastricht University Medical Center+, Maastricht, the Netherlands., Rubio-Gozalbo ME; Department of Pediatrics, Maastricht University Medical Center+, Maastricht, the Netherlands.; GROW, Maastricht University, Maastricht, the Netherlands.; Department of Clinical Genetics, Maastricht University Medical Center+, Maastricht, the Netherlands.

Publikováno v: Journal of inherited metabolic disease [J Inherit Metab Dis] 2022 Jul; Vol. 45 (4), pp. 748-758. Date of Electronic Publication: 2022 May 27.

Nucleotide sugar profiles throughout development in wildtype and galt knockout zebrafish.

Autor: Haskovic M; Department of Pediatrics, Maastricht University Medical Center+, Maastricht, The Netherlands.; Department of Clinical Genetics, Maastricht University Medical Center+, Maastricht, The Netherlands.; GROW School for Oncology and Developmental Biology, Maastricht University, Maastricht, The Netherlands., Coelho AI; Department of Pediatrics, Maastricht University Medical Center+, Maastricht, The Netherlands.; Department of Clinical Genetics, Maastricht University Medical Center+, Maastricht, The Netherlands.; GROW School for Oncology and Developmental Biology, Maastricht University, Maastricht, The Netherlands., Lindhout M; Department of Clinical Genetics, Maastricht University Medical Center+, Maastricht, The Netherlands., Zijlstra F; Department of Laboratory Medicine, Translational Metabolic Laboratory, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands., Veizaj R; Department of Neurology, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands., Vos R; Department of Methodology and Statistics, CAPHRI School for Primary Care and Public Health, Faculty of Health Medicine and Life Sciences, Maastricht University, Maastricht, The Netherlands., Vanoevelen JM; Department of Clinical Genetics, Maastricht University Medical Center+, Maastricht, The Netherlands.; GROW School for Oncology and Developmental Biology, Maastricht University, Maastricht, The Netherlands., Bierau J; Department of Clinical Genetics, Maastricht University Medical Center+, Maastricht, The Netherlands., Lefeber DJ; Department of Laboratory Medicine, Translational Metabolic Laboratory, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.; Department of Neurology, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands., Rubio-Gozalbo ME; Department of Pediatrics, Maastricht University Medical Center+, Maastricht, The Netherlands.; Department of Clinical Genetics, Maastricht University Medical Center+, Maastricht, The Netherlands.; GROW School for Oncology and Developmental Biology, Maastricht University, Maastricht, The Netherlands.

Publikováno v: Journal of inherited metabolic disease [J Inherit Metab Dis] 2020 Sep; Vol. 43 (5), pp. 994-1001. Date of Electronic Publication: 2020 Jun 05.

The natural history of classic galactosemia: lessons from the GalNet registry.

Autor: Rubio-Gozalbo ME; Department of Pediatrics and Clinical Genetics, GROW-School for Oncology and Developmental Biology, Maastricht University Medical Centre, P. Debyelaan 25, P.O. Box 5800, 6202 AZ, Maastricht, The Netherlands. estela.rubio@mumc.nl., Haskovic M; Department of Pediatrics and Clinical Genetics, GROW-School for Oncology and Developmental Biology, Maastricht University Medical Centre, P. Debyelaan 25, P.O. Box 5800, 6202 AZ, Maastricht, The Netherlands., Bosch AM; Amsterdam UMC, University of Amsterdam, Pediatric Metabolic Diseases, Emma Children's Hospital, Amsterdam, Netherlands., Burnyte B; Institute of Biomedical Sciences of the Faculty of Medicine of Vilnius University, Vilnius, Lithuania., Coelho AI; Department of Pediatrics and Clinical Genetics, GROW-School for Oncology and Developmental Biology, Maastricht University Medical Centre, P. Debyelaan 25, P.O. Box 5800, 6202 AZ, Maastricht, The Netherlands., Cassiman D; Metabolic Center, Department of Gastroenterology-Hepatology, Leuven University Hospitals and KU Leuven, Leuven, Belgium., Couce ML; Unit of Diagnosis and Treatment of Congenital Metabolic Diseases, S. Neonatology, Department of Pediatrics, Hospital Clínico Universitario de Santiago de Compostela, CIBERER, Health Research Institute of Santiago de Compostela (IDIS), Santiago de Compostela, Spain., Dawson C; Department of Endocrinology, Queen Elizabeth Hospital Birmingham, London, UK., Demirbas D; Manton Center for Orphan Disease Research, Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Derks T; Section of Metabolic Diseases, Beatrix Children's Hospital, and Groningen University Institute for Drug Exploration (GUIDE), University Medical Center Groningen, University of Groningen, Groningen, The Netherlands., Eyskens F; Antwerp University Hospital, Antwerp, Belgium., Forga MT; Hospital Clinic Barcelona, Barcelona, Spain., Grunewald S; Metabolic Medicine Department, Great Ormond Street Hospital, Institute for Child Health UCL, London, UK., Häberle J; Division of Metabolism and Children's Research Center, University Children's Hospital, Zurich, Switzerland., Hochuli M; Department of Endocrinology, Diabetes, and Clinical Nutrition, University Hospital Zurich, Zurich, Switzerland., Hubert A; APHP, HUPS, Hôpital Antoine Béclère, Centre de Référence Maladies Héréditaires Hépatiques, Clamart, France.; Université Paris Sud-Paris Saclay, and INSERM U 1195, Paris, France., Huidekoper HH; Department of Pediatrics, Center for Lysosomal and Metabolic Diseases, Erasmus MC-Sophia Children's Hospital, Rotterdam, The Netherlands., Janeiro P; Department of Pediatrics, Hospital Santa Maria, Centro Hospitalar Universitário Lisboa Norte EPE, Lisbon, Portugal., Kotzka J; Institute for Clinical Biochemistry and Pathobiochemistry, German Diabetes Center, Leibniz Center for Diabetes Research at Heinrich Heine University, Düsseldorf, Germany., Knerr I; National Centre for Inherited Metabolic Disorders, Temple Street Children's University Hospital, Temple Street, Dublin, Ireland., Labrune P; APHP, HUPS, Hôpital Antoine Béclère, Centre de Référence Maladies Héréditaires Hépatiques, Clamart, France.; Université Paris Sud-Paris Saclay, and INSERM U 1195, Paris, France., Landau YE; Metabolic Disease Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, and Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel., Langendonk JG; Department of Internal Medicine, Center for Lysosomal and Metabolic Diseases, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands., Möslinger D; Department for Pediatrics and Adolescent Medicine, Inborn Errors of Metabolism, Medical University of Vienna, Vienna, Austria., Müller-Wieland D; Clinical Research Center, Department of Medicine I, University Hospital RWTH Aachen, Aachen, Germany., Murphy E; Charles Dent Metabolic Unit, National Hospital for Neurology and Neurosurgery, London, UK., Õunap K; Department of Clinical Genetics, United Laboratories and Institute of Clinical Medicine, Tartu University Hospital, Tartu, Estonia., Ramadza D; Department of Pediatrics, University Hospital Centre, Zagreb, Croatia., Rivera IA; Research Institute for Medicines (iMed.ULisboa), and Department of Biochemistry and Human Biology, Faculty of Pharmacy, Universidade de Lisboa, Lisbon, Portugal., Scholl-Buergi S; Universitätsklink für Pädiatrie, Tirol Kliniken GmbH, Innsbruck, Austria., Stepien KM; Mark Holland Metabolic Unit, Adult Inherited Metabolic Disorders Department, Salford Royal NHS Foundation Trust, Salford, M6 8HD, UK., Thijs A; Vrije Universiteit Amsterdam, Internal Medicine, Amsterdam UMC, Amsterdam, Netherlands., Tran C; Center for Molecular Diseases, Division of Genetic Medicine, University Hospital Lausanne, Lausanne, Switzerland., Vara R; Department of Paediatric Inherited Metabolic Disease, Evelina London Children's Hospital, London, UK., Visser G; Department of Pediatrics, University Medical Centre Utrecht, Utrecht, The Netherlands., Vos R; Department of Methodology and Statistics, CAPHRI School for Primary Care and Public Health, Faculty Health Medicine and Life Sciences, Maastricht, The Netherlands., de Vries M; Department of Pediatrics, Radboud University Medical Center, Nijmegen, The Netherlands., Waisbren SE; Department of Pediatrics, Division of Genomics and Genetics, Harvard Medical School and Boston Children's Hospital, Boston, USA., Welsink-Karssies MM; Amsterdam UMC, University of Amsterdam, Pediatric Metabolic Diseases, Emma Children's Hospital, Amsterdam, Netherlands., Wortmann SB; University Children's Hospital, Parcelsus Medical University (PMU), Salzburg, Austria., Gautschi M; Department of Pediatrics and Institute of Clinical Chemistry, Inselspital, University Hospital Bern, Bern, Switzerland., Treacy EP; Metabolic Disease Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, and Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.; National Centre for Inherited Metabolic Disorders, Mater Misericordiae University Hospital, Dublin 7, Ireland., Berry GT; Manton Center for Orphan Disease Research, Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.

Publikováno v: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2019 Apr 27; Vol. 14 (1), pp. 86. Date of Electronic Publication: 2019 Apr 27.

Hereditary galactosemia.

Autor: Demirbas D; Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Coelho AI; Department of Pediatrics, Department of Clinical Genetics, GROW-School for Oncology and Developmental Biology, Maastricht University Medical Centre, Maastricht, The Netherlands., Rubio-Gozalbo ME; Department of Pediatrics, Department of Clinical Genetics, GROW-School for Oncology and Developmental Biology, Maastricht University Medical Centre, Maastricht, The Netherlands., Berry GT; Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA. Electronic address: gerard.berry@childrens.harvard.edu.

Publikováno v: Metabolism: clinical and experimental [Metabolism] 2018 Jun; Vol. 83, pp. 188-196. Date of Electronic Publication: 2018 Jan 31.

Classic Galactosemia: Study on the Late Prenatal Development of GALT Specific Activity in a Sheep Model.

Autor: Coelho AI; Department of Pediatrics, Maastricht University Medical Centre, Maastricht, The Netherlands.; Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, The Netherlands., Bierau J; Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, The Netherlands., Lindhout M; Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, The Netherlands., Achten J; Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, The Netherlands., Kramer BW; Department of Pediatrics/Neonatology, Maastricht University Medical Centre, Maastricht, The Netherlands., Rubio-Gozalbo ME; Department of Pediatrics, Maastricht University Medical Centre, Maastricht, The Netherlands.; Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, The Netherlands.

Publikováno v: Anatomical record (Hoboken, N.J. : 2007) [Anat Rec (Hoboken)] 2017 Sep; Vol. 300 (9), pp. 1570-1575. Date of Electronic Publication: 2017 Jun 07.