Long-term complications in classic galactosemia are not progressive

Autor: Smith, Nicole H., Hendrickson, Emma T., Garrett, Olivia S., Chernoff, Rachel A., Orloff, Danielle H., Druss, Jared J., Stettner, Nichole M., Paull, Nathan H., Fridovich-Keil, Judith L.

Publikováno v: In Molecular Genetics and Metabolism November 2023 140(3)

Health and well-being of maturing adults with classic galactosemia.

Autor: Garrett OS; Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia, USA., Druss JJ; Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia, USA., Vos EN; MosaKids Children's Hospital, Department of Pediatrics, Maastricht University Medical Center, Maastricht, Netherlands., Fu YD; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, USA., Lucia S; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, USA., Greenstein PE; Department of Neurology, Beth Israel Deaconess Medical Center and Harvard Medical School, Boston, Massachusetts, USA., Bauer A; Department of Inborn Errors of Metabolism and Pediatrics, Institute of Mother and Child, Warsaw, Poland., Sykut-Cegielska J; Department of Inborn Errors of Metabolism and Pediatrics, Institute of Mother and Child, Warsaw, Poland., Stepien KM; Adult Inherited Metabolic Disorders Department, Salford Royal Organization, Northern Care Alliance NHS Foundation Trust, Salford, UK., Arbuckle C; Charles Dent Metabolic Unit, University College London Hospitals NHS Foundation Trust, London, UK., Grafakou O; Clinical Genetics and Metabolic Disorders Clinic, Department of Pediatrics, Archbishop Makarios III Hospital, State Health Services Organization, Nicosia, Cyprus., Meyer U; Department of Pediatric Kidney, Liver, Metabolic and Neurological Diseases, Hannover Medical School, Hannover, Germany., Vanhoutvin N; Department of Gastroenterology-Hepatology and Metabolic Center, University Hospitals Leuven, 3000 Leuven, Belgium., Pané A; Endocrinology and Nutrition Department, Hospital Clinic de Barcelona, CIBEROBN, Instituto de Salud Carlos III, Madrid, Spain., Bosch AM; Department of Pediatrics, Division of Metabolic Diseases, Amsterdam Gastroenterology Endocrinology and Metabolism, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, Netherlands., Rubio-Gozalbo E; MosaKids Children's Hospital, Department of Pediatrics, Maastricht University Medical Center, Maastricht, Netherlands.; Laboratory of Clinical Genetics, Maastricht University Medical Center, Maastricht, Netherlands., Berry GT; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, USA., Fridovich-Keil JL; Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia, USA.

Publikováno v: Journal of inherited metabolic disease [J Inherit Metab Dis] 2025 Jan; Vol. 48 (1), pp. e12786. Date of Electronic Publication: 2024 Aug 14.