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Clinical findings in Brazilian patients with adult GM1 gangliosidosis

Abstract GM1 gangliosidosis is a lysosomal storage disorder caused by β‐galactosidase deficiency. To date, prospective studies for GM1 gangliosidosis are not available, and only a few have focused on the adult form. This retrospective cross‐sectional study focused on clinical findings in Brazilian p...

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Principais autores: Luciana Giugliani, Carlos Eduardo Steiner, Chong Ae Kim, Charles Marques Lourenço, Mara Lucia Schmitz Ferreira Santos, Carolina Fischinger Moura deSouza, Ana Carolina Brusius‐Facchin, Guilherme Baldo, Mariluce Riegel, Roberto Giugliani
Format: Artigo
Sprog:Inglês
Udgivet: Wiley 2019-09-01
Serier:JIMD Reports
Fag:
beta‐galactosidase deficiency
Brazil
GM1 gangliosidosis
INAGEMP
late onset
sphingolipidosis
Online adgang:https://doi.org/10.1002/jmd2.12067
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