A common mutation is associated with a mild, potentially asymptomatic phenotype in patients with isovaleric acidemia diagnosed by newborn screening
| Document Type: | Article |
|---|---|
| Language: | English |
| Author: | Regina Ensenauer, Jerry Vockley, Jan-Marie Willard, Joseph C. Huey, Jörn Oliver Sass, Steven D. Edland, Barbara K. Burton, Susan A. Berry, René Santer, Sarah Grünert, Hans-Georg Koch, Iris Marquardt, Piero Rinaldo, Sihoun Hahn, Dietrich Matern |
| Parent Title (English): | The American Journal of Human Genetics |
| Volume: | 75 |
| Issue: | 6 |
| First Page: | 1136 |
| Last Page: | 1142 |
| ISSN: | 0002-9297 |
| DOI: | https://doi.org/10.1086/426318 |
| PMID: | https://pubmed.ncbi.nlm.nih.gov/15486829 |
| Publisher: | American Society of Human Genetics |
| Publication year: | 2004 |
| Note: | Open Archive |
| 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 |
