JAN P contact KRAUS

Summary

Affiliation: University of Colorado Denver
Country: USA

Publications

  1. pmc Propionic acidemia: clinical course and outcome in 55 pediatric and adolescent patients
    Sarah C Grünert
    Labor für Klinische Biochemie und Stoffwechsel, Zentrum für Kinder und Jugendmedizin, Universitatsklinikum Freiburg, Freiburg, Germany
    Orphanet J Rare Dis 8:6. 2013
  2. doi request reprint Mutation analysis in 54 propionic acidemia patients
    J P Kraus
    Department of Pediatrics, Colorado Intellectual and Developmental Disabilities Research Center IDDRC, University of Colorado Denver, Anschutz Medical Campus, Aurora, CO 80045, USA
    J Inherit Metab Dis 35:51-63. 2012

Collaborators

  • O A Bodamer
  • R Steinfeld
  • M R Baumgartner
  • A Superti-Furga
  • Sarah C Grünert
  • Terttu Suormala
  • Michaela Brunner-Krainz
  • Jorn Oliver Sass
  • Rene Santer
  • Sabine Scholl-Burgi
  • Thorsten Marquardt
  • Linda De Silva
  • Daniela Karall
  • Karl Otfried Schwab
  • Kerstin Walter
  • Skadi Beblo
  • Martin Lindner
  • Vassiliki Konstantopoulou
  • Regina Ensenauer
  • Thomas Meissner
  • Melanie Walter
  • Ina Knerr
  • Stephanie Müllerleile
  • Claudia Haase
  • Wolfgang Sperl
  • Agnes van Teeffelen-Heithoff
  • Julia B Hennermann
  • Michael Barth
  • Hans Georg Koch

Detail Information

Publications2

  1. pmc Propionic acidemia: clinical course and outcome in 55 pediatric and adolescent patients
    Sarah C Grünert
    Labor für Klinische Biochemie und Stoffwechsel, Zentrum für Kinder und Jugendmedizin, Universitatsklinikum Freiburg, Freiburg, Germany
    Orphanet J Rare Dis 8:6. 2013
    ..Propionic acidemia is an inherited disorder caused by deficiency of propionyl-CoA carboxylase. Although it is one of the most frequent organic acidurias, information on the outcome of affected individuals is still limited...
  2. doi request reprint Mutation analysis in 54 propionic acidemia patients
    J P Kraus
    Department of Pediatrics, Colorado Intellectual and Developmental Disabilities Research Center IDDRC, University of Colorado Denver, Anschutz Medical Campus, Aurora, CO 80045, USA
    J Inherit Metab Dis 35:51-63. 2012
    ..Numerous new intronic polymorphisms in both PCC genes were identified. This study adds a considerable amount of new molecular data to the studies of this disease...