Niemann-Pick B - RS - 5th infusion.
Por um escritor misterioso
Last updated 26 abril 2025

Frontiers Expert opinion on patient journey, diagnosis and clinical monitoring in acid sphingomyelinase deficiency in Turkey: a pediatric metabolic disease specialist's perspective

Intrathecal 2-hydroxypropyl-β-cyclodextrin decreases neurological disease progression in Niemann-Pick disease, type C1: a non-randomised, open-label, phase 1–2 trial - The Lancet

New Treatment of Disease that Swells Organs Gives New Hope to 4-year-old Girl - International Niemann-Pick Disease Alliance (INPDA)

Niemann-Pick disease type C

Olipudase alfa enzyme replacement therapy for acid sphingomyelinase deficiency (ASMD): sustained improvements in clinical outcomes after 6.5 years of treatment in adults, Orphanet Journal of Rare Diseases
Niemann-Pick B - RS - 5th infusion.

Niemann-Pick C1 expression is not regulated by the amount of cholesterol flowing through cells in the mouse - ScienceDirect

Interstitial lung disease in lysosomal storage disorders

Interstitial lung disease in lysosomal storage disorders

(PDF) Niemann-Pick Disease: An Underdiagnosed Lysosomal Storage Disorder

Neurological manifestations of lysosomal disorders and emerging therapies targeting the CNS - The Lancet Child & Adolescent Health
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