Experimental treatment for Niemann-Pick disease appears safe
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Descrição
An experimental drug has appeared to slow the progression of Niemann-Pick disease the drug 2-hydroxypropyl-beta-cyclodextrin is being tested
TPC2 rescues lysosomal storage in mucolipidosis type IV, Niemann–Pick type C1, and Batten disease
Correlation of age of onset and clinical severity in Niemann–Pick disease type C1 with lysosomal abnormalities and gene expression
Niemann-Pick disease Information
Enhanced Delivery and Effects of Acid Sphingomyelinase by ICAM-1-Targeted Nanocarriers in Type B Niemann-Pick Disease Mice - ScienceDirect
New murine Niemann-Pick type C models bearing a pseudoexon-generating mutation recapitulate the main neurobehavioural and molecular features of the disease
Miglustat in Niemann-Pick disease type C patients: a review, Orphanet Journal of Rare Diseases
A Practical Chromogenic Procedure for the Detection of Homozygotes and Heterozygous Carriers of Niemann-Pick Disease
Current advancements in therapy for Niemann-Pick disease: progress and pitfalls: Expert Opinion on Pharmacotherapy: Vol 24, No 11
Niemann-Pick disease A or B in four pediatric patients and SMPD1 mutation carrier frequency in the Mexican population
Full article: Current advancements in therapy for Niemann-Pick disease: progress and pitfalls
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