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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   +5 more sources

Compound heterozygous Niemann-Pick Type C disease in the neonatal period

Journal of Contemporary Medicine, 2021
Yenidoğan döneminde birleşik heterozigot Niemann-Pick Type C hastalığı Niemann-Pick Tip C hastalığı (NPC), esterifiye olmamış kolesterollerin lizozomlarda depolanması ile karekterize nörodejeneratif bir lizozomal depo hastalığıdır.
Özden Turan, Zerrin Yilmaz, Ayşe Ecevit, Deniz Anuk-ince   +3 more
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Estimated prevalence of Niemann–Pick type C disease in Quebec [PDF]

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   +2 more sources

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

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
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Clinical presentation and molecular genetics of Iranian patients with Niemann-pick type C disease and report of 6 NPC1 gene novel variants: A case series [PDF]

Molecular Genetics and Metabolism Reports
Niemann Pick Type C disease is a rare and progressive neurodegenerative lysosomal storage disorder caused by autosomal recessive mutations in the NPC1 and NPC2 genes.
Hedyeh Saneifard, Marjan Shakiba, Mohammadreza Alaei, Asieh Mosallanejad, Shirin Ghanefard, Mehrdad Yasaei, Kimia Karimi Toudeshki   +6 more
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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   +2 more sources

Peripheral neuropathy as a very rare symptom in a patient with Niemann–Pick type C with negative enzymatic evaluation: a case report

Journal of Medical Case Reports, 2022
Background Niemann–Pick is a rare metabolic disease distinguished by lysosomal storage defects. This disease is characterized by sphingomyelinase acid deficiency, causing its accumulation in various organs such as the kidneys, spleen, liver, brain, and ...
Mohammad Barzegar, Fatemeh Valaee, Shadi Ghoreishizadeh   +2 more
doaj   +1 more source

Niemann-Pick disease type C with kidney involvement

Human Pathology: Case Reports, 2021
Niemann-Pick disease type C is a lysosomal storage disease characterized by defects in lipid trafficking, typically involving the liver, spleen, and central nervous system. Only rare reports of renal involvement of Niemann-Pick disease have been reported
Aanand A. Patel, Anthony Sisk, Jonathan E. Zuckerman   +2 more
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Case Report: Be Aware of “New” Features of Niemann–Pick Disease: Insights From Two Pediatric Cases

Frontiers in Genetics, 2022
Niemann–Pick disease is a relatively common lysosomal storage disease. Cholestatic liver disease is a typical clinical phenotype of Niemann–Pick disease in infancy. The diagnosis is traditionally based on Niemann–Pick cells in bone marrow smears or liver
Fan Chen, Shan Guo, Xuesong Li, Shengxuan Liu, Li Wang, Victor Wei Zhang, Hui Xu, Zhihua Huang, Yanqin Ying, Sainan Shu   +9 more
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LC-MS/MS multiplex analysis of lysosphingolipids in plasma and amniotic fluid: A novel tool for the screening of sphingolipidoses and Niemann-Pick type C disease. [PDF]

PLoS ONE, 2017
The biological diagnosis of sphingolipidoses currently relies on the measurement of specific enzymatic activities and/or genetic studies. Lysosphingolipids have recently emerged as potential biomarkers of sphingolipidoses and Niemann-Pick type C in ...
Magali Pettazzoni, Roseline Froissart, Cécile Pagan, Marie T Vanier, Séverine Ruet, Philippe Latour, Nathalie Guffon, Alain Fouilhoux, Dominique P Germain, Thierry Levade, Christine Vianey-Saban, Monique Piraud, David Cheillan   +12 more
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