Results 11 to 20 of about 2,679,717 (208)

Synthetic high-density lipoprotein nanoparticles for the treatment of Niemann–Pick diseases [PDF]

BMC Medicine, 2019
Background Niemann–Pick disease type C is a fatal and progressive neurodegenerative disorder characterized by the accumulation of unesterified cholesterol in late endosomes and lysosomes.
Mark L. Schultz, Maria V. Fawaz, Ruth D. Azaria, Todd C. Hollon, Elaine A. Liu, Thaddeus J. Kunkel, Troy A. Halseth, Kelsey L. Krus, Ran Ming, Emily E. Morin, Hayley S. McLoughlin, David D. Bushart, Henry L. Paulson, Vikram G. Shakkottai, Daniel A. Orringer, Anna S. Schwendeman, Andrew P. Lieberman   +16 more
doaj   +2 more sources

Stem Cells in Niemann‐Pick Disease [PDF]

Disease Markers, 2008
Neural stem cells are multi‐potent and able to self renew to maintain its character throughout the life. Loss of self renewal ability of stem cells prevents recovery or replacement of cells damaged by disease with new cells. The Niemann‐Pick type C1 (NPC1) disease is one of the neurodegenerative diseases, caused by a mutation of NPC1 gene which affects
Kim, Sun-Jung, Park, Joon-Suk, Kang, Kyung-Sun   +2 more
openaire   +4 more sources

Sertraline Treatment Can Mimic Niemann-Pick Type C Biomarker Profile: A Diagnostic Pitfall. [PDF]

Ann Clin Transl Neurol
ABSTRACT Background Oxysterols (cholestane‐3β,5α,6β‐triol and 7‐ketocholesterol) and N‐palmitoyl‐O‐phosphocholineserine (PPCS) are sensitive biomarkers for Niemann‐Pick disease type C (NPC) screening. However, false‐positive results occur, with a biomarker profile suggestive of NPC despite the absence of pathogenic variants in genes involved in NPC or ...
Makrygianni M, Pagan C, Citterio-Quentin A, Rouvet I, Dingeo G, Hanin C, Laurent-Levinson C, Pichard S, Héron B, Gourguechon C, Mandia D, Guitton J, Lacout C, Schleinitz N, Potier F, Flabeau O, Besse-Pinot E, Lamari F, Pettazzoni M, Nadjar Y.   +19 more
europepmc   +2 more sources

Revisiting Inherited Metabolic Diseases (IMDs) Through the Lens of Selective Autophagy [PDF]

J Inherit Metab Dis
ABSTRACT Selective autophagy is increasingly recognized as a fundamental quality‐control mechanism that complements bulk autophagy by enabling the targeted degradation of specific intracellular cargos, including mitochondria, endoplasmic reticulum (ER), lipid droplets, glycogen, peroxisomes, ferritin, ribosomes, and protein aggregates.
Maddaluno M, Cinque L, Cetrangolo V, De Leonibus C.   +3 more
europepmc   +2 more sources

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

Priapism associated with Niemann-Pick disease in a 15-year-old boy

Indian Journal of Urology, 2011
A 15-year-old boy presented with priapism of 46 h duration. There was no known cause of priapism detected in him. During evaluation, biopsy of the lymph node and bone marrow aspiration detected patient to be having Niemann-Pick disease.
M V Krishna Shetty, M Udaya Kumar, T K Sen   +2 more
doaj   +2 more sources

Niemann - Pick disease associated with hemophagocytic syndrome [PDF]

Turkish Journal of Hematology, 2010
Hemophagocytic lymphohistiocytosis (HLH) is a disease characterized by phagocytosis of blood cells by macrophages within the lymphoreticular tissue. It can develop secondary to some diseases or be familial as a result of genetic mutations.
Serap Karaman, Nafiye Urgancı, Günsel Kutluk, Feyzullah Çetinkaya   +3 more
doaj   +4 more sources

Aspectes moleculars de dues malalties de transport lisosòmic: la cistinosi i la malaltia de Niemann-Pick tipus C [PDF]

, 2012
[cat] La cistinosi i la malaltia de Niemann-Pick tipus C (NPC) són dues patologies hereditàries monogèniques poc freqüents, per aquest motiu estan classificades dins del grup de malalties anomenades rares.
Macías Vidal, Judit
core   +7 more sources

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
doaj   +1 more source

Impact and burden of acid sphingomyelinase deficiency from a patient and caregiver perspective

Scientific Reports, 2021
Acid sphingomyelinase deficiency (ASMD), historically known as Niemann–Pick disease (NPD) types A, A/B, and B, is a rare, progressive, potentially fatal lysosomal storage disease with a spectrum of phenotypes.
Robin Pokrzywinski, Asha Hareendran, Luba Nalysnyk, Sandy Cowie, Joslyn Crowe, Justin Hopkin, Dhaivat Joshi, Ruth Pulikottil-Jacob   +7 more
doaj   +1 more source