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Mild orotic aciduria in UMPS heterozygotes: a metabolic finding without clinical consequences.
Wortmann, Saskia B; Chen, Margaret A; Colombo, Roberto; Pontoglio, Alessandro; Alhaddad, Bader; Botto, Lorenzo D; Yuzyuk, Tatiana; Coughlin, Curtis R; Descartes, Maria; Grunewald, Stephanie; Maranda, Bruno; Mills, Philippa B; Pitt, James; Potente, Catherine; Rodenburg, Richard; Kluijtmans, Leo A J; Sampath, Srirangan; Pai, Emil F; Wevers, Ron A; Tiller, George E.
Afiliación
  • Wortmann SB; Department of Pediatrics, Salzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU), Mullner Hauptstrasse 48, 5020, Salzburg, Austria. s.wortmann-hagemann@salk.at.
  • Chen MA; Institute of Human Genetics, Helmholtz Zentrum Munich, Neuherberg, Germany. s.wortmann-hagemann@salk.at.
  • Colombo R; Institute of Human Genetics, Technical University Munich, Munich, Germany. s.wortmann-hagemann@salk.at.
  • Pontoglio A; Prevention Genetics, Marshfield, WI, USA.
  • Alhaddad B; Institute of Clinical Biochemistry, Faculty of Medicine, Catholic University of the Sacred Heart, Rome, Italy.
  • Botto LD; Center for the Study of Rare Hereditary Diseases, Niguarda Ca' Granda Metropolitan Hospital, Milan, Italy.
  • Yuzyuk T; Institute of Human Genetics, Technical University Munich, Munich, Germany.
  • Coughlin CR; Department of Genetics, University of Utah School of Medicine, Salt Lake City, UT, USA.
  • Descartes M; Department of Pathology, University of Utah, Salt Lake City, UT, USA.
  • Grunewald S; ARUP Laboratories, Salt Lake City, UT, USA.
  • Maranda B; Department of Pediatrics, University of Colorado Denver, Anschutz Medical Campus, Aurora, CO, USA.
  • Mills PB; Departments of Genetics and Pediatrics, University of Alabama School of Medicine, Birmingham, AL, USA.
  • Pitt J; Metabolic Medicine Department, Great Ormond Street Hospital for Children NHS Foundation Trust, and UCL Institute of Child Health, London, UK.
  • Potente C; CHUS Genetic Services, University of Sherbrooke, Sherbrooke, QC, Canada.
  • Rodenburg R; Genetics and Genomic Medicine Programme, UCL Great Ormond Street Institute of Child Health, London, UK.
  • Kluijtmans LA; Victorian Clinical Genetics Services, Murdoch Childrens Research Institute, Royal Children's Hospital, Parkville, Australia.
  • Sampath S; Department of Paediatrics, University of Melbourne, Parkville, Australia.
  • Pai EF; Ambry Genetics, Aliso Viejo, CA, USA.
  • Wevers RA; Translational Metabolic Laboratory, Department of Laboratory Medicine, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Tiller GE; Translational Metabolic Laboratory, Department of Laboratory Medicine, Radboud University Medical Center, Nijmegen, The Netherlands.
J Inherit Metab Dis ; 40(3): 423-431, 2017 05.
Article en En | MEDLINE | ID: mdl-28205048
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Orotato Fosforribosiltransferasa / Orotidina-5'-Fosfato Descarboxilasa / Errores Innatos del Metabolismo de la Purina-Pirimidina / Complejos Multienzimáticos Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: J Inherit Metab Dis Año: 2017 Tipo del documento: Article País de afiliación: Austria
Texto completo
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Orotato Fosforribosiltransferasa / Orotidina-5'-Fosfato Descarboxilasa / Errores Innatos del Metabolismo de la Purina-Pirimidina / Complejos Multienzimáticos Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: J Inherit Metab Dis Año: 2017 Tipo del documento: Article País de afiliación: Austria