Results 31 to 40 of about 25,072 (275)

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

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

The coexistence of two rare diseases thought to use the same pathologic pathway: cystic fibrosis and Niemann-Pick disease

The Turkish Journal of Pediatrics, 2022
Background. Cystic fibrosis (CF) is a multisystemic, autosomal recessive disease, which is caused by a mutation in the transmembrane conduction regulator protein (CFTR) gene.
Aslı İmran Yılmaz, Betül Uğurlu, Gökçen Ünal, Hüseyin Tokgöz, Sevgi Pekcan   +4 more
doaj   +1 more source

Changes to cholesterol trafficking in macrophages by Leishmania parasites infection [PDF]

, 2017
Leishmania spp. are protozoan parasites that are transmitted by sandfly vectors during blood sucking to vertebrate hosts and cause a spectrum of diseases called leishmaniases.
Anderson, Andrade-Neto, Antoine, Bansal, Berman, Blanchette-Mackie, Burack, Carstea, Carvalho, Chakraborty, Chattopadhyay, Collins, Coombs, Coppens, De Cicco, Desvergne, Duclos, Edwards, Ehrenman, Fernandes, Ghosh, Ghosh, Ghosh, Ginger, Ginger, Goldstein, Groener, Hamid, Hart, Ikonen, Infante, Johndrow, Kima, Kima, Kok, Kwon, Lal, Lecoeur, Lippuner, Livak, Majumder, Maxfield, McIntosh, Misslitz, Naureckiene, Neufeld, Osorio y Fortea, Ovalle-Bracho, Paape, Paape, Pereira, Portugal, Pucadyil, Rabhi, Redgrave, Roberts, Rosenzweig, Rub, Russell, Saunders, Sen, Shamshiev, Soares, Sorensen, Tetley, Tewary, Tontonoz, Weinheber   +67 more
core   +2 more sources

Exacerbating and reversing lysosomal storage diseases: from yeast to humans

Microbial Cell, 2017
Lysosomal storage diseases (LSDs) arise from monogenic deficiencies in lysosomal proteins and pathways and are characterized by a tissue-wide accumulation of a vast variety of macromolecules, normally specific to each genetic lesion.
Tamayanthi Rajakumar, Andrew B. Munkacsi, Stephen L. Sturley   +2 more
doaj   +1 more source

Recommendations for the detection and diagnosis of Niemann-Pick disease type C: An update. [PDF]

, 2017
PURPOSE OF REVIEW: Niemann-Pick disease type C (NP-C) is a neurovisceral disorder that may be more prevalent than earlier estimates. Diagnosis of NP-C is often delayed; a key aim for clinical practice is to reduce this delay.
Anheim, M, Bauer, P, Bonnot, O, Clayton, P, Dardis, A, Dionisi-Vici, C, Gissen, P, Klünemann, H-H, Latour, P, Lourenço, CM, Marquardt, T, Ory, DS, Parker, A, Patterson, MC, Pocoví, M, Strupp, M, Vanier, MT, Walterfang, M   +17 more
core   +3 more sources

Evolution of structural neuroimaging biomarkers in a series of adult patients with Niemann-Pick type C under treatment [PDF]

, 2017
International audienceBackground: Niemann-Pick type C (NPC) disease is a lysosomal storage disorder characterized by a wide clinical spectrum and non-specific conventional magnetic resonance imaging (MRI) signs.
Damien Galanaud, Fanny Mochel, Frédéric Sedel, Isaac Adanyeguh, Marion Masingue, Yann Nadjar   +5 more
core   +2 more sources

Sertraline Treatment Can Mimic Niemann‐Pick Type C Biomarker Profile: A Diagnostic Pitfall

Annals of Clinical and Translational Neurology, EarlyView.
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 ...
Maria Makrygianni, Cecile Pagan, Antony Citterio‐Quentin, Isabelle Rouvet, Giulia Dingeo, Cyril Hanin, Claudine Laurent‐Levinson, Samia Pichard, Bénédicte Héron, Clément Gourguechon, Daniele Mandia, Jerome Guitton, Carole Lacout, Nicolas Schleinitz, Florient Potier, Olivier Flabeau, Elsa Besse‐Pinot, Foudil Lamari, Magali Pettazzoni, Yann Nadjar   +19 more
wiley   +1 more source

A rare partnership: patient community and industry collaboration to shape the impact of real-world evidence on the rare disease ecosystem

Orphanet Journal of Rare Diseases
People with rare lysosomal storage diseases face challenges in their care that arise from disease complexity and heterogeneity, compounded by many healthcare professionals being unfamiliar with these diseases.
T. L. Klein, J. Bender, S. Bolton, T. Collin-Histed, A. Daher, L. De Baere, D. Dong, J. Hopkin, J. Johnson, T. Lai, M. Pavlou, T. Schaller, I. Žnidar   +12 more
doaj   +1 more source

Lipids regulate the hydrolysis of membrane bound glucosylceramide by lysosomal β-glucocerebrosidase

Journal of Lipid Research, 2017
Glucosylceramide (GlcCer) is the primary storage lipid in the lysosomes of Gaucher patients and a secondary one in Niemann-Pick disease types A, B, and C.
Misbaudeen Abdul-Hammed, Bernadette Breiden, Günter Schwarzmann, Konrad Sandhoff   +3 more
doaj   +1 more source