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Arginine does not rescue p.Q188R mutation deleterious effect in classic galactosemia.
Haskovic, Minela; Derks, Britt; van der Ploeg, Liesbeth; Trommelen, Jorn; Nyakayiru, Jean; van Loon, Luc J C; Mackinnon, Sabrina; Yue, Wyatt W; Peake, Roy W A; Zha, Li; Demirbas, Didem; Qi, Wanshu; Huang, Xiaoping; Berry, Gerard T; Achten, Jelle; Bierau, Jörgen; Rubio-Gozalbo, M Estela; Coelho, Ana I.
Afiliação
  • Haskovic M; Department of Clinical Genetics, Maastricht University Medical Center +, Maastricht, The Netherlands.
  • Derks B; Department of Pediatrics, Maastricht University Medical Center +, Maastricht, The Netherlands.
  • van der Ploeg L; GROW-School for Oncology and Developmental Biology, University of Maastricht, Maastricht, The Netherlands.
  • Trommelen J; Department of Clinical Genetics, Maastricht University Medical Center +, Maastricht, The Netherlands.
  • Nyakayiru J; Department of Pediatrics, Maastricht University Medical Center +, Maastricht, The Netherlands.
  • van Loon LJC; GROW-School for Oncology and Developmental Biology, University of Maastricht, Maastricht, The Netherlands.
  • Mackinnon S; Department of Dietetics, Maastricht University Medical Center +, Maastricht, The Netherlands.
  • Yue WW; Department of Human Biology, NUTRIM School of Nutrition and Translational Research in Metabolism, Maastricht University Medical Center +, Maastricht, The Netherlands.
  • Peake RWA; Department of Human Biology, NUTRIM School of Nutrition and Translational Research in Metabolism, Maastricht University Medical Center +, Maastricht, The Netherlands.
  • Zha L; Department of Human Biology, NUTRIM School of Nutrition and Translational Research in Metabolism, Maastricht University Medical Center +, Maastricht, The Netherlands.
  • Demirbas D; Structural Genomics Consortium, Nuffield Department of Clinical Medicine, University of Oxford, Oxford, UK.
  • Qi W; Structural Genomics Consortium, Nuffield Department of Clinical Medicine, University of Oxford, Oxford, UK.
  • Huang X; Department of Laboratory Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
  • Berry GT; Department of Laboratory Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
  • Achten J; The Manton Center for Orphan Disease Research, Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
  • Bierau J; The Manton Center for Orphan Disease Research, Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
  • Rubio-Gozalbo ME; The Manton Center for Orphan Disease Research, Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
  • Coelho AI; The Manton Center for Orphan Disease Research, Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
Orphanet J Rare Dis ; 13(1): 212, 2018 11 26.
Article em En | MEDLINE | ID: mdl-30477550
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Arginina / Galactosemias / Mutação Tipo de estudo: Observational_studies / Risk_factors_studies Limite: Humans Idioma: En Ano de publicação: 2018 Tipo de documento: Article
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Arginina / Galactosemias / Mutação Tipo de estudo: Observational_studies / Risk_factors_studies Limite: Humans Idioma: En Ano de publicação: 2018 Tipo de documento: Article