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.

The Influence of a Conjugated Pneumococcal Vaccination on Plasma Antibody Levels against Oxidized Low-Density Lipoprotein in Metabolic Disease Patients: A Single-Arm Pilot Clinical Trial.

Autor: Shiri-Sverdlov R; Department of Molecular Genetics, School of Nutrition and Translational Research in Metabolism (NUTRIM), Maastricht University, 6229 ER Maastricht, The Netherlands., Dos Reis IM; Department of Molecular Genetics, School of Nutrition and Translational Research in Metabolism (NUTRIM), Maastricht University, 6229 ER Maastricht, The Netherlands., Oligschlaeger Y; Department of Molecular Genetics, School of Nutrition and Translational Research in Metabolism (NUTRIM), Maastricht University, 6229 ER Maastricht, The Netherlands., Hendrikx T; Department of Laboratory Medicine, Medical University of Vienna, 1090 Vienna, Austria., Meesters DM; Department of Molecular Genetics, School of Nutrition and Translational Research in Metabolism (NUTRIM), Maastricht University, 6229 ER Maastricht, The Netherlands., Vanclooster A; Liver Research Unit, University of Leuven, 3000 Leuven, Belgium.; Department of Gastroenterology-Hepatology and Metabolic Center, University Hospitals Leuven, 3000 Leuven, Belgium., Vanhoutvin N; Liver Research Unit, University of Leuven, 3000 Leuven, Belgium.; Department of Gastroenterology-Hepatology and Metabolic Center, University Hospitals Leuven, 3000 Leuven, Belgium., Koek GH; Internal Medicine, Division of Gastroenterology and Hepatology, Maastricht University Medical Centre, 6229 ER Maastricht, The Netherlands., Westerterp M; Department of Pediatrics, University of Groningen, University Medical Center Groningen, 9700 RB Groningen, The Netherlands., Binder CJ; Department of Laboratory Medicine, Medical University of Vienna, 1090 Vienna, Austria., Cassiman D; Liver Research Unit, University of Leuven, 3000 Leuven, Belgium.; Department of Gastroenterology-Hepatology and Metabolic Center, University Hospitals Leuven, 3000 Leuven, Belgium., Houben T; Department of Molecular Genetics, School of Nutrition and Translational Research in Metabolism (NUTRIM), Maastricht University, 6229 ER Maastricht, The Netherlands.

Publikováno v: Antioxidants (Basel, Switzerland) [Antioxidants (Basel)] 2021 Jan 18; Vol. 10 (1). Date of Electronic Publication: 2021 Jan 18.

Genotype/Phenotype Relationship: Lessons From 137 Patients With PMM2‐CDG.

Autor: Pajusalu, Sander, Vals, Mari-Anne, Serrano, Mercedes, Witters, Peter, Cechova, Anna, Honzik, Tomáš, Edmondson, Andrew C., Ficicioglu, Can, Barone, Rita, De Lonlay, Pascale, Bérat, Claire-Marine, Vuillaumier-Barrot, Sandrine, Lam, Christina, Patterson, Marc C., Janssen, Mirian C. H., Martins, Esmeralda, Quelhas, Dulce, Sykut-Cegielska, Jolanta, Mousa, Jehan, Urreizti, Roser

Publikováno v: Human Mutation; 10/3/2024, Vol. 2024, p1-21, 21p

Cysteine Pathogenic Variants of PMM2 Are Sensitive to Environmental Stress with Loss of Structural Stability.

Autor: Yu, Fan, Lin, Li, Sun, Jingmiao, Pan, Jicheng, Liao, Yixin, Pan, Yunfan, Bai, Guannan, Ma, Liangjian, Mao, Jianhua, Hu, Lidan

Publikováno v: Oxidative Medicine & Cellular Longevity; 1/25/2023, p1-17, 17p

Bromo-Cyclobutenaminones as New Covalent UDP- N -Acetylglucosamine Enolpyruvyl Transferase (MurA) Inhibitors.

Autor: Hamilton, David J.^1,2 (AUTHOR) abranyi-balogh.peter@ttk.hu, Ábrányi-Balogh, Péter² (AUTHOR) aaron.keeley@ttk.hu, Keeley, Aaron² (AUTHOR) petri.laszlo@ttk.hu, Petri, László² (AUTHOR), Hrast, Martina³ (AUTHOR) martina.hrast@ffa.uni-lj.si, Imre, Tímea⁴ (AUTHOR) imre.timea@ttk.hu, Wijtmans, Maikel¹ (AUTHOR) m.wijtmans@vu.nl, Gobec, Stanislav³ (AUTHOR) Stanislav.Gobec@ffa.uni-lj.si, Esch, Iwan J. P. de¹ (AUTHOR) i.de.esch@vu.nl, Keserű, György Miklós² (AUTHOR) keseru.gyorgy@ttk.hu

Publikováno v: Pharmaceuticals (14248247). Nov2020, Vol. 13 Issue 11, p362. 1p.