Results 181 to 190 of about 24,478,248 (209)

Niemann–Pick C disease in Spain: Clinical spectrum and development of a disability scale

Journal of the Neurological Sciences, 2006
Mercè Pineda i Marfà, Marie T Vanier, M T Vanier   +2 more
exaly  

Acid sphingomyelinase deficiency: Prevalence and characterization of an intermediate phenotype of Niemann-Pick disease

Journal of Pediatrics, 2006
Robert J. Desnick, Scott E Brodie, Melissa P Wasserstein   +2 more
exaly  

Type C Niemann-Pick disease

Brain and Development, 1993
Jun Tohyama, Mitsuhiro Kato, Tatsuya Koeda, Kousaku Ohno   +3 more
openaire   +1 more source

Systematic review of psychiatric signs in Niemann-Pick disease type C

World Journal of Biological Psychiatry, 2019
Mark Walterfang, Olivier Bonnot, Hans-Hermann Klünemann   +2 more
exaly  

Biochemical studies in niemann-pick disease I. Major sphingolipids of liver and spleen

Lipids and Lipid Metabolism, 1983
Marie T Vanier
exaly  

3.3 Å structure of Niemann–Pick C1 protein reveals insights into the function of the C-terminal luminal domain in cholesterol transport

Proceedings of the National Academy of Sciences of the United States of America, 2017
Joachim Seemann, Philip Schmiege, Jiawei Wang   +2 more
exaly  

Niemann–Pick Type C

2010
openaire   +1 more source

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  

Morbidity and mortality in type B Niemann–Pick disease

Genetics in Medicine, 2013
Robert J. Desnick, Emilia Bagiella, Edward H Schuchman   +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 B Savage, Albert Bendelac   +2 more
exaly