Clinical findings in Brazilian patients with adult GM1 gangliosidosis

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 patients w...

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Dades bibliogràfiques
Publicat a:JIMD Rep
Autors principals: Giugliani, Luciana, Steiner, Carlos Eduardo, Kim, Chong Ae, Lourenço, Charles Marques, Santos, Mara Lucia Schmitz Ferreira, de Souza, Carolina Fischinger Moura, Brusius‐Facchin, Ana Carolina, Baldo, Guilherme, Riegel, Mariluce, Giugliani, Roberto
Format: Artigo
Idioma:Inglês
Publicat: John Wiley & Sons, Inc. 2019
Matèries:
Research Reports
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC6718113/
https://ncbi.nlm.nih.gov/pubmed/31497487
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/jmd2.12067
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