Results 141 to 150 of about 12,631 (179)

Treatment trials in Niemann-Pick type C disease

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

Niemann‐Pick disease in a fœtus

The Journal of Pathology and Bacteriology, 1953
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
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  

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, Savage Paul B
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  

Niemann-Pick's Disease

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

Niemann-Pick Disease

2020
openaire   +2 more sources

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