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.

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作者： Juana Inés,Navarrete-Martínez ^[1] ; Ana Elena,Limón-Rojas ^[2] ; Maria de Jesús,Gaytán-García ^[1] ; Jesús,Reyna-Figueroa ^[3] ; Guillermo,Wakida-Kusunoki ^[2] ; Ma Del Rocío,Delgado-Calvillo ^[4] ; Consuelo,Cantú-Reyna ^[5] ; Héctor,Cruz-Camino ^[6] ; David Eduardo,Cervantes-Barragán ^[7]

作者单位： Department of Genetics, Hospital Central Sur de Alta Especialidad, PEMEX, Mexico City, Mexico. ^[1] General Dictatorate, Hospital Central Sur de Alta Especialidad, PEMEX, Mexico City, Mexico. ^[2] Department of Medical Education and Research, Hospital Central Sur de Alta Especialidad, PEMEX, Mexico City, Mexico. ^[3] Department of Pediatrics, Hospital Regional de Villahermosa, PEMEX, Villahermosa, Tabasco, Mexico. ^[4] Genomi-k SAPI de CV. Monterrey, Nuevo León, Mexico; Escuela de Medicina Tecnológico de Monterrey, Monterrey, Nuevo León, Mexico. ^[5] Genomi-k SAPI de CV. Monterrey, Nuevo León, Mexico; Escuela de Biotecnología y Ciencias de la Salud, Tecnológico de Monterrey, Monterrey, Nuevo León, Mexico. ^[6] Department of Genetics, Hospital Central Sur de Alta Especialidad, PEMEX, Mexico City, Mexico; Facultad Mexicana de Medicina, Universidad La Salle, Mexico City, Mexico. Electronic address: david.eduardo.cervantes@pemex.com. ^[7]

关键词 Fabry disease Gaucher disease Krabbe disease LSD Lysosomal storage disorder Mucopolysaccharidosis type I Newborn screening Niemann–Pick A/B Pompe disease