JAN P contact KRAUS
Affiliation: University of Colorado Denver
- Propionic acidemia: clinical course and outcome in 55 pediatric and adolescent patientsSarah 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...
- Mutation analysis in 54 propionic acidemia patientsJ 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...
- Homocysteine & Heme: A Role in Thrombosis?JAN P contact KRAUS; Fiscal Year: 2010..This project looks at the errors in the CBS protein, and tries to learn from those errors how the protein normally works. ..