Article: Preliminary investigation of the use of newborn dried blood spots for screening pyridoxine-dependent epilepsy by LC-MS/MS
Molecular genetics and metabolism. 2013 Nov., v. 110, no. 3
2013
Abstract: α-AASA and P6C were measured retrospectively in original newborn DBS of five patients with PDE using a LC-MS/MS method we developed previously. Both α-AASA and P6C were elevated markedly in the three newborn DBS stored at −20°C. At room temperature, α- ... ...
Abstract | α-AASA and P6C were measured retrospectively in original newborn DBS of five patients with PDE using a LC-MS/MS method we developed previously. Both α-AASA and P6C were elevated markedly in the three newborn DBS stored at −20°C. At room temperature, α-AASA and P6C in DBS appeared stable for 3days and then decreased by up to 70% after 14days but remained much higher than control, indicating newborn screening for PDE is feasible. |
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Keywords | blood ; epilepsy ; neonates ; patients ; screening ; temperature |
Language | English |
Dates of publication | 2013-11 |
Size | p. 237-240. |
Publishing place | Elsevier Inc. |
Document type | Article |
ZDB-ID | 1418518-0 |
ISSN | 1096-7206 ; 1096-7192 |
ISSN (online) | 1096-7206 |
ISSN | 1096-7192 |
DOI | 10.1016/j.ymgme.2013.07.017 |
Database | NAL-Catalogue (AGRICOLA) |
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