Mutation analysis in 54 propionic acidemia patients
Jan P. Kraus(Lexicon Pharmaceuticals (United States)), Jörn Oliver Sass(Boston Children's Hospital), Ina Knerr, Walter K.K. Ho(University Medical Center Freiburg), Sabine Scholl‐Bürgi(Innsbruck Medical University), Claudia M. Haase(Jena University Hospital), Vassiliki Konstantopoulou(Medical University of Vienna), Andrea Superti‐Furga(University of Lausanne), Geralyn Creadon‐Swindell(University of Colorado Anschutz Medical Campus), Regina Ensenauer(Zimmer Biomet (Netherlands)), Daniela Karall(Innsbruck Medical University), Matthias R. Baumgartner(University Children's Hospital Zurich), Terttu Suormala(Johns Hopkins University), A. van Teeffelen‐Heithoff(University of Münster), Wolfgang Sperl(Paracelsus Medical University), Sarah C. Grünert(University Medical Center Freiburg), Elaine Spector(DNA Diagnostic (Denmark)), Julia B. Hennermann(Charité - Universitätsmedizin Berlin), Robert Steinfeld(University of Göttingen), Hans‐Georg Koch(University of Freiburg), Thorsten Marquardt(Klinik und Poliklinik für Kinder- und Jugendmedizin), Magdalena Ugarte(Universidad Autónoma de Madrid), P. C. Estes(University of Colorado Anschutz Medical Campus), René Santer(Universität Hamburg), Melanie Walter(The University of Sydney), Skadi Beblo(University Hospital Leipzig), Olaf A. Bodamer(Broad Institute), S. Müllerleile(University Medical Center Freiburg), L. de Silva(University Medical Center Freiburg), Tobias Meißner(University of South Dakota), Pei-fang Chiang(University of Colorado Anschutz Medical Campus), Martin Lindner(Heidelberg University), Karl Otfried Schwab(University Medical Center Freiburg), Sarah Venezia(University of Colorado Anschutz Medical Campus), M. Barth(University Medical Center Freiburg), Michaela Brunner‐Krainz(Graz University Hospital)
Cited by 52
Related Papers
Analytical and clinical validation of a microbial cell-free DNA sequencing test for infectious disease
|Nature Microbiology|2019|1k
Patient-Customized Oligonucleotide Therapy for a Rare Genetic Disease
|New England Journal of Medicine|2019|823
Nosology and classification of genetic skeletal disorders: 2010 revision
|American Journal of Medical Genetics Part A|2011|717
Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia
|Orphanet Journal of Rare Diseases|2014|713
Nosology and classification of genetic skeletal disorders: 2019 revision
|American Journal of Medical Genetics Part A|2019|620