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

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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Bibliographic Details
Main Authors: Guilherme Dotto Brand, Helainy Cristina de Matos, Gabriel Costa Nunes da Cruz, Nilza do Carmo Fontes, Marcelo Buzzi, Jaime Moritz Brum
Format: Article
Language:English
Published: Faculdade de Medicina / USP 2013-11-01
Series:Clinics
Subjects:
Dried Blood Spot Analysis
Pompe Disease
Fabry Disease
Gaucher Disease
Krabbe Disease
Online Access:http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1807-59322013001101469&lng=en&tlng=en

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http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1807-59322013001101469&lng=en&tlng=en

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