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Article

The treatment of juvenile/adult GM1-gangliosidosis with Miglustat may reverse disease progression.

Metabolic brain disease - 1 Oct 2017

Deodato Federica, Procopio Elena, Rampazzo Angelica, Taurisano Roberta, Donati Maria Alice, Dionisi-Vici Carlo, Caciotti Anna, Morrone Amelia, Scarpa Maurizio

Abstract excerpt

Juvenile and adult GM1-gangliosidosis are invariably characterized by progressive neurological deterioration. To date only symptomatic therapies are available. We report for the first time the positive results of Miglustat (OGT 918, N-butyl-deoxynojirimycin) treatment on three Italian GM1-gangliosidosis patients. The first two patients had a juvenile form (enzyme activity ≤5%, GLB1 genotype...

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Identifiers

PMID: 28577204
DOI: 10.1007/s11011-017-0044-y

Genes

GLB1
OGT

Variants

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