Doença de Niemann-Pick (Tipos A / B e C)

Associação Portuguesa de Doenças do Lisossoma - APL

Doença de Niemann-Pick (Tipos A / B e C)

“Chronic visceral acid sphingomyelinase deficiency (Niemann-Pick disease type B) in 16 Polish patients: long-term follow-up” – LINK

“Disease characteristics, prognosis and miglustat treatment effects on disease progression in patients with Niemann-Pick disease Type C: an international, multicenter, retrospective chart review” – LINK

“Adult Niemann-Pick disease type C in France: clinical phenotypes and long-term miglustat treatment effect” – LINK

“Consensus clinical management guidelines for Niemann-Pick disease type C” – LINK

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