| Автор | Chace, Donald H. |
| Автор | Kalas, Theodore A. |
| Автор | Naylor, Edwin W. |
| Дата выпуска | 2002 |
| dc.description | ▪ Abstract This review is intended to serve as a practical guide for geneticists to current applications of tandem mass spectrometry to newborn screening. By making dried-blood spot analysis more sensitive, specific, reliable, and inclusive, tandem mass spectrometry has improved the newborn detection of inborn errors of metabolism. Its innate ability to detect and quantify multiple analytes from one prepared blood specimen in a single analysis permits broad recognition of amino acid, fatty acid, and organic acid disorders. An increasing number of newborn screening programs are either utilizing or conducting pilot studies with tandem mass spectrometry. It is therefore imperative that the genetics community be familiar with tandem mass spectrometric newborn screening. |
| Формат | application.pdf |
| Издатель | Annual Reviews |
| Копирайт | Annual Reviews |
| Название | THE APPLICATION OF TANDEM MASS SPECTROMETRY TO NEONATAL SCREENING FOR INHERITED DISORDERS OF INTERMEDIARY METABOLISM |
| DOI | 10.1146/annurev.genom.3.022502.103213 |
| Print ISSN | 1527-8204 |
| Журнал | Annual Review of Genomics and Human Genetics |
| Том | 3 |
| Первая страница | 17 |
| Последняя страница | 45 |
| Аффилиация | Chace, Donald H.; Division of BioAnalytical Chemistry and Mass Spectrometry, Neo Gen Screening, Bridgeville, Pennsylvania 15017; email: dhchace@neogenscreening.com tkalas@neogenscreening.com ednaylor@neogenscreening.com |
