| Article ID | Journal | Published Year | Pages | File Type |
|---|---|---|---|---|
| 10833773 | Molecular Genetics and Metabolism | 2012 | 4 Pages |
Abstract
⺠The present case provides us with a number of important lessons. ⺠Newborn screening is based upon the detection of persistent increase C4-OH acylcarnitine. ⺠Isolated increase of 3-OHglutaric acid is an important biomarker of this disorder. ⺠Without molecular analysis we might have ruled out the possibility of SCHAD deficiency.
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Authors
Laura Vilarinho, Jorge Sales Marques, Hugo Rocha, Altina Ramos, Lurdes Lopes, Srinivas B. Narayan, Michael J. Bennett,