Results 171 to 180 of about 14,555 (206)

Treatment trials in Niemann-Pick type C disease

Metabolic Brain Disease, 2021
Dominika Sitarska, Anna Tylki-Szymanska, Agnieszka Ługowska   +2 more
exaly  

Reticuloendotheliosis: Niemann-Pick disease

The Journal of Pediatrics, 1968
openaire   +2 more sources

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

Analytical Biochemistry, 2017
Ladislav Kuchar, Jakub Sikora, Helena Poupětová   +2 more
exaly  

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

Cell, 2019
Mikael B L Winkler, Maria Szomek, Katja Thaysen   +2 more
exaly  

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
Paul B Savage, Albert Bendelac, Luc Teyton   +2 more
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
Tooru Kudoh, David A Wenger
exaly  

Morbidity and mortality in type B Niemann–Pick disease

Genetics in Medicine, 2013
Natalie Lippa, Emilia Bagiella, Edward H Schuchman   +2 more
exaly  

Niemann-Pick Disease

2020
openaire   +2 more sources

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

Clinical Biochemistry, 2004
Maira G Burin, Ricardo F Pires, Roberto Giugliani   +2 more
exaly  

Niemann-Pick's Disease

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