Title |
Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: data from the E-HOD registry
|
---|---|
Published in |
Journal of Inherited Metabolic Disease, September 2018
|
DOI | 10.1007/s10545-018-0238-4 |
Pubmed ID | |
Authors |
Martina Huemer, Daria Diodato, Diego Martinelli, Giorgia Olivieri, Henk Blom, Florian Gleich, Stefan Kölker, Viktor Kožich, Andrew A. Morris, Burkhardt Seifert, D. Sean Froese, Matthias R. Baumgartner, Carlo Dionisi-Vici, the EHOD consortium, C. Alcalde Martin, M. Baethmann, D. Ballhausen, J. Blasco-Alonso, N. Boy, M. Bueno, R. Burgos Peláez, R. Cerone, B. Chabrol, K. A. Chapman, M. L. Couce, E. Crushell, J. Dalmau Serra, L. Diogo, C. Ficicioglu, M. C. García Jimenez, M. T. García Silva, A. M. Gaspar, M. Gautschi, D. González-Lamuño, S. Gouveia, S. Grünewald, C. Hendriksz, M. C. H. Janssen, P. Jesina, J. Koch, V. Konstantopoulou, C. Lavigne, A. M. Lund, E. G. Martins, S. Meavilla Olivas, K. Mention, F. Mochel, H. Mundy, E. Murphy, S. Paquay, C. Pedrón-Giner, M. A. Ruiz Gómez, S. Santra, M. Schiff, I. V. Schwartz, S. Scholl-Bürgi, A. Servais, A. Skouma, C. Tran, I. Vives Piñera, J. Walter, J. Weisfeld-Adams |
X Demographics
Geographical breakdown
Country | Count | As % |
---|---|---|
Spain | 4 | 100% |
Demographic breakdown
Type | Count | As % |
---|---|---|
Members of the public | 4 | 100% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Unknown | 14 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Other | 3 | 21% |
Professor | 3 | 21% |
Student > Ph. D. Student | 1 | 7% |
Student > Master | 1 | 7% |
Researcher | 1 | 7% |
Other | 2 | 14% |
Unknown | 3 | 21% |
Readers by discipline | Count | As % |
---|---|---|
Medicine and Dentistry | 6 | 43% |
Psychology | 2 | 14% |
Biochemistry, Genetics and Molecular Biology | 1 | 7% |
Nursing and Health Professions | 1 | 7% |
Unknown | 4 | 29% |