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Clinical and biochemical improvement with galactose supplementation in SLC35A2-CDG.
Witters, Peter; Tahata, Shawn; Barone, Rita; Õunap, Katrin; Salvarinova, Ramona; Grønborg, Sabine; Hoganson, George; Scaglia, Fernando; Lewis, Andrea Margaret; Mori, Mari; Sykut-Cegielska, Jolanta; Edmondson, Andrew; He, Miao; Morava, Eva.
  • Witters P; Department of Paediatrics and Metabolic Center, University Hospitals Leuven, Leuven, Belgium.
  • Tahata S; Department of Development and Regeneration, KU Leuven, Leuven, Belgium.
  • Barone R; Department of Clinical Genomics, Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.
  • Õunap K; Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy.
  • Salvarinova R; Department of Clinical Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia.
  • Grønborg S; Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.
  • Hoganson G; Children's & Women's Health Centre of British Columbia, Vancouver, BC, Canada.
  • Scaglia F; Center for Inherited Metabolic Diseases, Department of Pediatrics, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark.
  • Lewis AM; Department of Pediatrics, University of Illinois, IL, Chicago, USA.
  • Mori M; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
  • Sykut-Cegielska J; Texas Children's Hospital, Houston, TX, USA.
  • Edmondson A; Joint BCM-CUHK Center of Medical Genetics, Prince of Wales Hospital, Shatin, Hong Kong.
  • He M; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
  • Morava E; Genetic and Genomic Medicine, Nationwide Children's Hospital, Columbus, OH, USA.
Genet Med ; 22(6): 1102-1107, 2020 06.
Article en En | MEDLINE | ID: mdl-32103184
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Trastornos Congénitos de Glicosilación / Epilepsia Límite: Child / Humans Idioma: En Año: 2020 Tipo del documento: Article
Texto completo
Imprimir
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PubMed Links
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Trastornos Congénitos de Glicosilación / Epilepsia Límite: Child / Humans Idioma: En Año: 2020 Tipo del documento: Article