Results 11 to 20 of about 25,942 (185)

Molecular basis for a new bovine model of Niemann-Pick type C disease.

PLoS ONE, 2020
Niemann-Pick type C disease is a lysosomal storage disease affecting primarily the nervous system that results in premature death. Here we present the first report and investigation of Niemann-Pick type C disease in Australian Angus/Angus-cross calves ...
Shernae A Woolley, Emily R Tsimnadis, Cor Lenghaus, Peter J Healy, Keith Walker, Andrew Morton, Mehar S Khatkar, Annette Elliott, Ecem Kaya, Clarisse Hoerner, David A Priestman, Dawn Shepherd, Frances M Platt, Ben T Porebski, Cali E Willet, Brendon A O'Rourke, Imke Tammen   +16 more
doaj   +1 more source

Estimated prevalence of Niemann–Pick type C disease in Quebec

Scientific Reports, 2021
Niemann–Pick type C (NP-C) disease is an autosomal recessive disease caused by variants in the NPC1 or NPC2 genes. It has a large range of symptoms depending on age of onset, thus making it difficult to diagnose.
Marjorie Labrecque, Lahoud Touma, Claude Bhérer, Antoine Duquette, Martine Tétreault   +4 more
doaj   +1 more source

Cytosolic Glucosylceramide regulates endolysosomal function in Niemann-Pick type C disease [PDF]

, 2019
A new paradigm for Niemann-Pick C disease is presented where lysosomal storage leads to a deficit in cytoplasmic glucosylceramide (GlcCer) where it performs important functions.
Bhardwaj, Meenakshi, Haberkant, Per, Schmid, Ralf, Sillence, Daniel J., Tongue, Paige, Wheeler, S.   +5 more
core   +1 more source

Niemann-Pick Disease Type C

Pediatric Neurology Briefs, 1989
The neurologic symptomatology in 22 patients with Niemann-Pick disease type C have been analyzed and reported from the Developmental and Metabolic Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health ...
J Gordon Millichap
doaj   +1 more source

Niemann-Pick disease type C

Orphanet Journal of Rare Diseases, 2010
Niemann-Pick C disease (NP-C) is a neurovisceral atypical lysosomal lipid storage disorder with an estimated minimal incidence of 1/120 000 live births.
Vanier Marie T
doaj   +1 more source

Difficult diagnosis. Niemann - Pick disease, type C

Медицинский совет, 2014
Modern diagnostic capabilities and improved medical knowledge allow to detect more diseases that were previously considered extremely rare. Along with the achievements of the pharmaceutical industry, timely diagnosis and adequate therapy often save the ...
L. S. Namazova-baranova, A. K. Gevorkyan, N. D. Vashakmadze, L. S. Vysotskaya, A. M. Mamedyarov, T. V. Margieva   +5 more
doaj   +1 more source

Diagnostic tests for Niemann-Pick disease type C (NP-C): A critical review [PDF]

, 2016
Niemann-Pick disease type C (NP-C) is a neurovisceral lysosomal cholesterol trafficking and lipid storage disorder caused by mutations in one of the two genes, NPC1 or NPC2. Diagnosis has often been a difficult task, due to the wide range in age of onset
Bauer, P, Burlina, A, Coll, MJ, Gissen, P, Goizet, C, Hendriksz, CJ, Kolb, SA, Latour, P, Marquardt, T, Vanier, MT, Welford, RWD   +10 more
core   +2 more sources

Niemann-Pick type C disease

Journal of Lipid Research, 2002
We analyzed Niemann-Pick type C disease 1 (NP44406) gene in 12 patients with Niemann-Pick type C disease by sequencing both cDNA obtained from fibroblasts and genomic DNA. All the patients were compound heterozygotes.
Patrizia Tarugi, Giorgia Ballarini, Bruno Bembi, Carla Battisti, Silvia Palmeri, Francesca Panzani, Enza Di Leo, Cristina Martini, Antonio Federico, Sebastiano Calandra   +9 more
doaj   +1 more source

Fostering collaborative research for rare genetic disease: The example of Niemann-Pick type C disease [PDF]

, 2016
Rare disease represents one of the most significant issues facing the medical community and health care providers worldwide, yet the majority of these disorders never emerge from their obscurity, drawing little attention from the medical community or the
Austin, Christopher P, Davidson, Cristin D, Jacoby, Jonathan, Marella, Philip D, Ory, Daniel S, Ottinger, Elizabeth A, Porter, Forbes D, Vite, Charles H, Walkley, Steven U   +8 more
core   +2 more sources

Psychosis in an adolescent girl: a common manifestation in Niemann-Pick Type C disease [PDF]

, 2014
Niemann-Pick disease type C (NP-C) is a rare autosomal-recessively inherited lysosomal storage disorder. It is caused by mutations in the NPC1 (95%) or NPC2 gene.
Annik Lampo, Edward Campforts, Linda De Meirleir, Sara Wouters   +3 more
core   +1 more source