| Article ID | Journal | Published Year | Pages | File Type |
|---|---|---|---|---|
| 10833101 | Molecular Genetics and Metabolism | 2013 | 7 Pages |
Abstract
⺠VLCAD deficiency (VLCADD) is now diagnosed in the US through newborn screening. ⺠Numerous NBS variant patterns can represent mild disease or heterozygous carriers. ⺠13 patient samples suspected of VLCADD were retrospectively investigated. ⺠Prokaryotic expression studies were performed for nine missense ACADVL mutations. ⺠Functional investigation of equivocal NBS or clinical testing is crucial to diagnose disease.
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Authors
Manuel Schiff, Al-Walid Mohsen, Anuradha Karunanidhi, Elizabeth McCracken, Renita Yeasted, Jerry Vockley,