L-2-hydroxyglutaric aciduria: identification of ten novel mutations in the L2HGDH gene
| Document Type: | Article |
|---|---|
| Language: | English |
| Author: | J. O. Sass, F. Jobard, M. Topçu, A. Mahfoud, E. Werlé, S. Cure, N. Al-Sannaa, S. A. Alshahwan, M. Bataillard, L. Cimbalistiene, C. Grolik, V. Kemmerich, H. Omran, L. Sztriha, M. Tabache, J. Fischer |
| Parent Title (English): | Journal of Inherited Metabolic Disease |
| Volume: | 31 |
| Issue: | Suppl 2 |
| First Page: | 275 |
| Last Page: | 279 |
| ISSN: | 0141-8955 |
| DOI: | https://doi.org/10.1007/s10545-008-0855-4 |
| PMID: | https://pubmed.ncbi.nlm.nih.gov/18415700 |
| Publisher: | Springer Netherlands |
| Place of publication: | Dordrecht |
| Date of first publication: | 2008/04/14 |
| Departments, institutes and facilities: | Institut für funktionale Gen-Analytik (IFGA) |
| Dewey Decimal Classification (DDC): | 6 Technik, Medizin, angewandte Wissenschaften / 61 Medizin und Gesundheit / 610 Medizin und Gesundheit |
| Entry in this database: | 2018/08/18 |
