Results 191 to 200 of about 21,027 (214)

Effects of Miglustat on Stabilization of Neurological Disorder in Niemann–Pick Disease Type C

Journal of Child Neurology, 2013
Mahmoud Reza Ashrafi, Yousef Shafeghati, Shadab Salehpour   +2 more
exaly  

Rapid Diagnosis of 83 Patients with Niemann Pick Type C Disease and Related Cholesterol Transport Disorders by Cholestantriol Screening

EBioMedicine, 2016
Manfred Fobker, Stephan Rust, Thorsten Marquardt   +2 more
exaly  

Brain pathology in Niemann Pick disease type A: insights from the acid sphingomyelinase knockout mice

Journal of Neurochemistry, 2011
Maria Dolores Ledesma, Alessandro Prinetti, Sandro Sonnino   +2 more
exaly  

Studies on sphingomyelinase and β-glucosidase activities in Niemann-Pick disease variants

Lipids and Lipid Metabolism, 1983
G T Besley
exaly  

The diverse neurological features of Niemann-Pick disease type C: A report of two cases

Movement Disorders, 1988
R J Coleman, B D Lake, E M Brett
exaly  

The hidden Niemann-Pick type C patient: clinical niches for a rare inherited metabolic disease

Current Medical Research and Opinion, 2017
Christian J Hendriksz, Mathieu Anheim, Peter Bauer   +2 more
exaly  

Niemann-pick disease

2023
openaire   +2 more sources

Niemann-Pick's disease.

Acta paediatrica, 1975
openaire   +2 more sources

Neurofibrillary tangles in Niemann—Pick disease type C

Brain, 1995
Seth Love, Leslie R Bridges, Love Seth
exaly  

Methyl-β-cyclodextrin restores impaired autophagy flux in Niemann-Pick C1-deficient cells through activation of AMPK

Autophagy, 2017
Sheng Dai, Christopher A Wassif, Forbes D Porter   +2 more
exaly