Morphology of Niemann-Pick type A metabolic storage disorder

An Italian girl, of nonconsanguineous parents, had normal growth and development but at 1 year, hepatosplenomegaly was noted. An older sister was norm

Niemann–Pick disease

Niemann-Pick disease types A and B (NORD): Video

Lysosomal SL catabolism and enzyme deficiencies causing storage

Morphology of Niemann-Pick type A metabolic storage disorder

Frontiers CNS-Targeting Therapies for Lysosomal Storage Diseases: Current Advances and Challenges

JCM, Free Full-Text

Pathophysiology of neuropathic lysosomal storage disorders - Bellettato - 2010 - Journal of Inherited Metabolic Disease - Wiley Online Library

PDF) A therapy with miglustat, 2-hydroxypropyl-ß-cyclodextrin and allopregnanolone restores splenic cholesterol homeostasis in Niemann-pick disease type C1

IJMS, Free Full-Text

Frontiers Reproduction in Animal Models of Lysosomal Storage Diseases: A Scoping Review

Lysosomal storage diseases Nature Reviews Disease Primers

IJMS, Free Full-Text