Article
Newborn screening for six lysosomal storage disorders in a cohort of Mexican patients: Three-year findings from a screening program in a closed Mexican health system.
Molecular genetics and metabolism - 1 May 2017
Navarrete-Martínez Juana Inés, Limón-Rojas Ana Elena, Gaytán-García Maria de Jesús, Reyna-Figueroa Jesús, Wakida-Kusunoki Guillermo, Delgado-Calvillo Ma Del Rocío, Cantú-Reyna Consuelo, Cruz-Camino Héctor, Cervantes-Barragán David Eduardo
Abstract excerpt
OBJECTIVE: To evaluate the results of a lysosomal newborn screening (NBS) program in a cohort of 20,018 Mexican patients over the course of 3years in a closed Mexican Health System (Petróleos Mexicanos [PEMEX] Health Services). STUDY DESIGN: Using dried blood spots (DBS), we performed a multiplex tandem mass spectrometry enzymatic assay for six lysosomal storage disorders (LSDs) including Pompe disease, Fabry...
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