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A multinational study of acute and long-term outcomes of Type 1 galactosemia patients who carry the S135L (c.404C > T) variant of GALT.

Autor: Katler QS; Division of Reproductive Endocrinology and Infertility, Department of Gynecology and Obstetrics, Emory University School of Medicine, Atlanta, Georgia, USA., Stepien KM; Adult Inherited Metabolic Diseases Department, Salford Royal Foundation NHS Trust, Salford, UK., Paull N; Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia, USA., Patel S; Neuroscience and Behavioral Biology Program, Emory University, Atlanta, Georgia, USA., Adams M; Division of Pediatric Genetics and Metabolism, UNC School of Medicine, Chapel Hill, North Carolina, USA., Balci MC; Department of Pediatric Metabolic Disease, Istanbul Medical School, Istanbul, Turkey., Berry GT; Division of Genetics and Genomics, Department of Pediatrics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA., Bosch AM; Division of Metabolic Diseases, Amsterdam Gastroenterology Endocrinology Metabolism, Department of Pediatrics, Emma Children's Hospital, Amsterdam UMC location University of Amsterdam, Amsterdam, The Netherlands., DeLaO A; Wasatch Pediatrics, Salt Lake City, Utah, USA., Demirbas D; Division of Genetics and Genomics, Department of Pediatrics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA., Edman J; Department of Pediatric Genetics, University of Illinois-Chicago, Chicago, Illinois, USA., Ficicioglu C; Division of Human Genetics and Metabolism, The Children's Hospital of Philadelphia, Perelman School of Medicine at The University of Pennsylvania, Philadelphia, Pennsylvania, USA., Goff M; Division of Genetic and Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio, USA., Hacker S; Department of Human Genetics, University of Miami Miller School of Medicine, Miami, Florida, USA., Knerr I; National Centre for Inherited Metabolic Disorders, Temple St. Children's University Hospital, Dublin, Ireland., Lancaster K; Division of Pediatric Genetics and Metabolism, UNC School of Medicine, Chapel Hill, North Carolina, USA., Li H; Departments of Human Genetics and Pediatrics, Emory University School of Medicine, Atlanta, Georgia, USA., Mendelsohn BA; Department of Genetics, Oakland Medical Center, Kaiser Permanente, Oakland, California, USA., Nichols B; Department of Clinical Nutrition, Arkansas Children's Hospital, Little Rock, Arkansas, USA., de Rezende Pinto WBV; Division of Neuromuscular Diseases, Universidade Federal de São Paulo (UNIFESP), São Paulo, Brazil., Rocha JC; Nutrition & Metabolism, NOVA Medical School, Faculdade de Ciências Médicas, Universidade Nova de Lisboa, Lisbon, Portugal.; Reference Centre of Inherited Metabolic Diseases, Centro Hospitalar Universitário de Lisboa Central, Lisbon, Portugal.; Center for Health Technology and Services Research (CINTESIS), NOVA Medical School, Lisbon, Portugal, Lisbon, Portugal., Rubio-Gozalbo ME; Department of Pediatrics, Department of Clinical Genetics, GROW-School for Oncology and Reproduction, European Reference Network for Hereditary Metabolic Disorders (MetabERN) member and United for Metabolic Diseases Member, Maastricht University Medical Centre, Maastricht, The Netherlands., Saad-Naguib M; Department of Human Genetics, University of Miami Miller School of Medicine, Miami, Florida, USA., Scholl-Buergi S; Department of Pediatrics I, Medical University of Innsbruck, Innsbruck, Austria., Searcy S; Division of Genetic and Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio, USA., de Souza PVS; Division of Neuromuscular Diseases, Federal University of São Paulo (UNIFESP), São Paulo, Brazil., Wittenauer A; Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia, 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] 2022 Nov; Vol. 45 (6), pp. 1106-1117. Date of Electronic Publication: 2022 Sep 26.

BRITISH VETERINARY ASSOCIATION.

Publikováno v: Veterinary Record: Journal of the British Veterinary Association. 11/14/2009, Vol. 165 Issue 20, p604-604. 1/2p.

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