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

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Metadaten
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