Diagnosing lysosomal storage diseases in a Brazilian non-newborn population by tandem mass spectrometry

OBJECTIVES: High-throughput mass spectrometry methods have been developed to screen newborns for lysosomal storage disorders, allowing the implementation of newborn screening pilot studies in North America and Europe. It is currently feasible to diagnose Pompe, Fabry, Gaucher, Krabbe, and Niemann-Pi...

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Detalles Bibliográficos
Autores principales: Brand, Guilherme Dotto, de Matos, Helainy Cristina, da Cruz, Gabriel Costa Nunes, do Carmo Fontes, Nilza, Buzzi, Marcelo, Brum, Jaime Moritz
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo 2013
Materias:
Rapid Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3812554/
https://www.ncbi.nlm.nih.gov/pubmed/24270961
http://dx.doi.org/10.6061/clinics/2013(11)14

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3812554/
https://www.ncbi.nlm.nih.gov/pubmed/24270961
http://dx.doi.org/10.6061/clinics/2013(11)14

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