Title |
Propionic acidemia: clinical course and outcome in 55 pediatric and adolescent patients
|
---|---|
Published in |
Orphanet Journal of Rare Diseases, January 2013
|
DOI | 10.1186/1750-1172-8-6 |
Pubmed ID | |
Authors |
Sarah C Grünert, Stephanie Müllerleile, Linda De Silva, Michael Barth, Melanie Walter, Kerstin Walter, Thomas Meissner, Martin Lindner, Regina Ensenauer, René Santer, Olaf A Bodamer, Matthias R Baumgartner, Michaela Brunner-Krainz, Daniela Karall, Claudia Haase, Ina Knerr, Thorsten Marquardt, Julia B Hennermann, Robert Steinfeld, Skadi Beblo, Hans-Georg Koch, Vassiliki Konstantopoulou, Sabine Scholl-Bürgi, Agnes van Teeffelen-Heithoff, Terttu Suormala, Wolfgang Sperl, Jan P Kraus, Andrea Superti-Furga, Karl Otfried Schwab, Jörn Oliver Sass |
Abstract |
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. |
X Demographics
Geographical breakdown
Country | Count | As % |
---|---|---|
Mexico | 1 | 20% |
United States | 1 | 20% |
Unknown | 3 | 60% |
Demographic breakdown
Type | Count | As % |
---|---|---|
Members of the public | 3 | 60% |
Practitioners (doctors, other healthcare professionals) | 1 | 20% |
Scientists | 1 | 20% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Spain | 1 | <1% |
China | 1 | <1% |
Unknown | 151 | 99% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Student > Ph. D. Student | 18 | 12% |
Researcher | 17 | 11% |
Student > Master | 17 | 11% |
Student > Doctoral Student | 17 | 11% |
Student > Postgraduate | 13 | 8% |
Other | 36 | 24% |
Unknown | 35 | 23% |
Readers by discipline | Count | As % |
---|---|---|
Medicine and Dentistry | 48 | 31% |
Biochemistry, Genetics and Molecular Biology | 15 | 10% |
Nursing and Health Professions | 13 | 8% |
Psychology | 12 | 8% |
Agricultural and Biological Sciences | 6 | 4% |
Other | 19 | 12% |
Unknown | 40 | 26% |