Results 141 to 150 of about 12,634 (178)

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  

Structural Insight into Eukaryotic Sterol Transport through Niemann-Pick Type C Proteins

Cell, 2019
Stephen Muench, Bjørn Panyella Pedersen, Shaun Rawson   +2 more
exaly  

Niemann-Pick's Disease

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

The Niemann-Pick type C2 protein loads isoglobotrihexosylceramide onto CD1d molecules and contributes to the thymic selection of NKT cells

Journal of Experimental Medicine, 2007
Luc Teyton, Paul Savage, Teyton Luc
exaly  

Uptake and metabolism of radioactively labeled sphingomyelin in cultured skin fibroblasts from controls and patients with niemann-pick disease and other lysosomal storage diseases

Lipids and Lipid Metabolism, 1983
David Wenger, Tooru Kudoh, T Kudoh
exaly  

Morbidity and mortality in type B Niemann–Pick disease

Genetics in Medicine, 2013
Robert Desnick, Emilia Bagiella, Edward Schuchman   +2 more
exaly  

Biochemical characterization of chitotriosidase enzyme: comparison between normal individuals and patients with Gaucher and with Niemann–Pick diseases

Clinical Biochemistry, 2004
Roberto Giugliani, Janice Coelho
exaly  

Animal models for Niemann-Pick type C: implications for drug discovery & development

Expert Opinion on Drug Discovery, 2019
Thomas Kirkegaard
exaly  

LC-MS/MS based assay and reference intervals in children and adolescents for oxysterols elevated in Niemann–Pick diseases

Clinical Biochemistry, 2015
Roberto Giugliani, Deborah Mathis, Marianne Rohrbach   +2 more
exaly  

Different features of lung involvement in Niemann-Pick disease and Gaucher disease

Respiratory Medicine, 2012
Deniz Dogru, Uğur Özçelik, Aysel Yüce   +2 more
exaly