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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.
Katler, Quinton S; Stepien, Karolina M; Paull, Nathan; Patel, Sneh; Adams, Michael; Balci, Mehmet Cihan; Berry, Gerard T; Bosch, Annet M; DeLaO, Angela; Demirbas, Didem; Edman, Julianna; Ficicioglu, Can; Goff, Melanie; Hacker, Stephanie; Knerr, Ina; Lancaster, Kristen; Li, Hong; Mendelsohn, Bryce A; Nichols, Brandi; de Rezende Pinto, Wladimir Bocca Vieira; Rocha, Júlio César; Rubio-Gozalbo, M Estela; Saad-Naguib, Michael; Scholl-Buergi, Sabine; Searcy, Sarah; de Souza, Paulo Victor Sgobbi; Wittenauer, Angela; Fridovich-Keil, Judith L.
Afiliação
  • 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.
  • Rubio-Gozalbo ME; Reference Centre of Inherited Metabolic Diseases, Centro Hospitalar Universitário de Lisboa Central, Lisbon, Portugal.
  • Saad-Naguib M; Center for Health Technology and Services Research (CINTESIS), NOVA Medical School, Lisbon, Portugal, Lisbon, Portugal.
  • Scholl-Buergi S; 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.
  • Searcy S; Department of Human Genetics, University of Miami Miller School of Medicine, Miami, Florida, USA.
  • de Souza PVS; Department of Pediatrics I, Medical University of Innsbruck, Innsbruck, Austria.
  • Wittenauer A; Division of Genetic and Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio, USA.
  • Fridovich-Keil JL; Division of Neuromuscular Diseases, Federal University of São Paulo (UNIFESP), São Paulo, Brazil.
J Inherit Metab Dis ; 45(6): 1106-1117, 2022 11.
Article em En | MEDLINE | ID: mdl-36093991
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Galactosemias Tipo de estudo: Diagnostic_studies / Risk_factors_studies Limite: Female / Humans / Newborn Idioma: En Revista: J Inherit Metab Dis Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Estados Unidos País de publicação: Estados Unidos
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Galactosemias Tipo de estudo: Diagnostic_studies / Risk_factors_studies Limite: Female / Humans / Newborn Idioma: En Revista: J Inherit Metab Dis Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Estados Unidos País de publicação: Estados Unidos