Results 191 to 200 of about 2,350,820 (217)

Cost of illness associated with Niemann-Pick disease type C in the UK

Journal of Medical Economics, 2009
Elke Hunsche, Jackie Imrie
exaly  

Quantitation of plasmatic lysosphingomyelin and lysosphingomyelin-509 for differential screening of Niemann-Pick A/B and C diseases

Analytical Biochemistry, 2017
Befekadu Asfaw, Helena Jahnová, Jana Ledvinová   +2 more
exaly  

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

Lipids and Lipid Metabolism, 1983
G T Besley
exaly  

Niemann-Pick's disease.

Acta paediatrica, 1975
openaire   +2 more sources

Niemann–Pick disease type C1 presenting with psychosis in an adolescent male

European Child and Adolescent Psychiatry, 2009
Christian J Bachmann
exaly  

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

Autophagy, 2017
Forbes D Porter, Christopher A Wassif
exaly  

Effects of Miglustat on Stabilization of Neurological Disorder in Niemann–Pick Disease Type C: Iranian Pediatric Case Series

Journal of Child Neurology, 2013
Mahmoud Reza Ashrafi, Shadab Salehpour
exaly  

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

Current Medical Research and Opinion, 2017
Jean-Christophe Corvol, Mathieu Anheim, Peter Bauer   +2 more
exaly  

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

EBioMedicine, 2016
Janine Reunert, Thorsten Marquardt, Manfred Fobker   +2 more
exaly  

Niemann-Pick's Disease

Annals of Internal Medicine, 1932
ROBERT A. KNOX, GEORGE W. RAMSEY
openaire   +1 more source