Browsing by Subject "Gangliosidoses"
Now showing items 1-3 of 3
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Plasma neurofilament light, glial fibrillary acidic protein and lysosphingolipid biomarkers for pharmacodynamics and disease monitoring of GM2 and GM1 gangliosidoses patients
(2022) [Journal article]GM2 and GM1 gangliosidoses are genetic, neurodegenerative lysosomal sphingolipid storage disorders. The earlier the age of onset, the more severe the clinical presentation and progression, with infantile, juvenile and ... -
Terapia gênica para doenças lisossômicas de depósito
(2004) [Abstract published in event] -
Triagem de novas mutações em pacientes com gangliosidose GM1 através da análise do polimorfismo conformacional de fita simples de DNA (SSCP)
(2004) [Abstract published in event]