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A common mutation is associated with a mild, potentially asymptomatic phenotype in patients with isovaleric acidemia diagnosed by newborn screening
Document Type: | Article |
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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 |