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Relative frequency and estimated minimal frequency of Lysosomal Storage Diseases in Brazil: Report from a Reference Laboratory

Abstract Lysosomal storage diseases (LSDs) comprise a heterogeneous group of more than 50 genetic conditions of inborn errors of metabolism (IEM) caused by a defect in lysosomal function. Although there are screening tests for some of these conditions, diagnosis usually depends on specific enzyme as...

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Main Authors: Roberto Giugliani, Andressa Federhen, Kristiane Michelin-Tirelli, Mariluce Riegel, Maira Burin
Format: Artigo
Language:Inglês
Published: Sociedade Brasileira de Genética 2017-03-01
Series:Genetics and Molecular Biology
Subjects:
Lysosomal storage diseases
epidemiology
reference center
biochemical genetics
Brazil
Online Access:http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572017000100031&lng=en&tlng=en
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