Publications by authors named "Mari Luz Couce"
Article Synopsis
- - The study emphasizes the importance of genetic analysis as a follow-up to suspected metabolic disorders found in newborns during screening in Spain, by utilizing advanced sequencing techniques like next-generation sequencing.
- - Out of 141 DNA samples tested, 59% confirmed the suspected metabolic diseases, while other cases either showed single variants or no variants, and 11 false positives were recorded.
- - The findings suggest that combining genetic analysis with biochemical tests enhances the diagnosis accuracy for metabolic disorders in newborns, potentially confirming more cases than traditional methods alone.
Background: Cellular cobalamin defects are a locus and allelic heterogeneous disorder. The gold standard for coming to genetic diagnoses of cobalamin defects has for some time been gene-by-gene Sanger sequencing of individual DNA fragments. Enzymatic and cellular methods are employed before such sequencing to help in the selection of the gene defects to be sought, but this is time-consuming and laborious.
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