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D-galactose supplementation in individuals with PMM2-CDG: results of a multicenter, open label, prospective pilot clinical trial.
Witters, Peter; Andersson, Hans; Jaeken, Jaak; Tseng, Laura; van Karnebeek, Clara D M; Lefeber, Dirk J; Cassiman, David; Morava, Eva.
Afiliação
  • Witters P; Metabolic Center, Department of Pediatrics, University Hospitals Leuven, Herestraat 49, 3000, Leuven, Belgium. Peter.witters@uzleuven.be.
  • Andersson H; Department of Development and Regeneration, KU Leuven, Leuven, Belgium. Peter.witters@uzleuven.be.
  • Jaeken J; Hayward Genetics Center, Tulane University School of Medicine, New Orleans, LA, USA.
  • Tseng L; Metabolic Center, Department of Pediatrics, University Hospitals Leuven, Herestraat 49, 3000, Leuven, Belgium.
  • van Karnebeek CDM; Departments of Pediatrics, Emma Children's Hospital, Amsterdam, The Netherlands.
  • Lefeber DJ; Departments of Pediatrics, Emma Children's Hospital, Amsterdam University Medical Centers, Amsterdam, The Netherlands.
  • Cassiman D; Department of Pediatrics, Radboud Centre for Mitochondrial Medicine, Radboud University Medical Centre, Nijmegen, The Netherlands.
  • Morava E; Department of Neurology, Translational Metabolic Laboratory, Donders Institute for Brain, Cognition, and Behavior, Radboudumc, Nijmegen, The Netherlands.
Orphanet J Rare Dis ; 16(1): 138, 2021 03 20.
Article em En | MEDLINE | ID: mdl-33743737
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fosfotransferases (Fosfomutases) / Defeitos Congênitos da Glicosilação Tipo de estudo: Clinical_trials / Observational_studies Limite: Humans Idioma: En Revista: Orphanet J Rare Dis Assunto da revista: MEDICINA Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Bélgica
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fosfotransferases (Fosfomutases) / Defeitos Congênitos da Glicosilação Tipo de estudo: Clinical_trials / Observational_studies Limite: Humans Idioma: En Revista: Orphanet J Rare Dis Assunto da revista: MEDICINA Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Bélgica