Zobrazeno 1 - 10
of 160
pro vyhledávání: '"Filipin staining test"'
Kniha
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Autor:
Marie T, Vanier, Philippe, Latour
Publikováno v:
Methods in cell biology. 126
Niemann-Pick disease type C (NPC) is an atypical neurovisceral lysosomal storage disorder resulting from mutations in either the NPC1 or the NPC2 gene, currently conceived as a lipid trafficking disorder. Impaired egress of cholesterol from the late
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::d99d66b8fb8186500faf2d5078b730d6
https://pubmed.ncbi.nlm.nih.gov/25665455
https://pubmed.ncbi.nlm.nih.gov/25665455
Autor:
Philippe Latour, Marie T. Vanier
Niemann-Pick disease type C (NPC) is an atypical neurovisceral lysosomal storage disorder resulting from mutations in either the NPC1 or the NPC2 gene, currently conceived as a lipid trafficking disorder. Impaired egress of cholesterol from the late
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7aa0a4bf73a0c3be0c2aba3fa998e276
https://doi.org/10.1016/bs.mcb.2014.10.028
https://doi.org/10.1016/bs.mcb.2014.10.028
Autor:
Mohamed, Ali A.1 (AUTHOR) amohamed2020@health.fau.edu, Gan, Willy2 (AUTHOR), Babici, Denis2 (AUTHOR), Hagan, Veronica1 (AUTHOR), Wald, Raphael2 (AUTHOR), Swerdloff, Marc2 (AUTHOR)
Publikováno v:
Neurology International. Jun2024, Vol. 16 Issue 3, p561-566. 6p.
Autor:
Pardo Echeverría, Liz Carolina1 lizcapar@yahoo.com.mx, Arrieta Violet, Leopoldo Antonio2, Seabra Souza, Fernanda Timm3
Publikováno v:
Ciencia en Desarrollo. jul-dic2016, Vol. 7 Issue 2, p35-41. 7p.
Autor:
Agnieszka Ługowska, Dominika Sitarska
Publikováno v:
Metabolic Brain Disease
Niemann-Pick type C disease (NPC) is a genetically determined neurodegenerative metabolic disease resulting from the mutations in the NPC1 or NPC2 genes. It belongs to the lysosomal storage diseases and its main cause is impaired cholesterol transpor
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1514fbf7baa4665bb2945311b538dbeb
http://europepmc.org/articles/PMC6744384
http://europepmc.org/articles/PMC6744384
Autor:
Abtahi, Rezvan1 (AUTHOR), Karimzadeh, Parvaneh2 (AUTHOR), Aryani, Omid3 (AUTHOR), Akbarzadeh, Diba4 (AUTHOR), Salehpour, Shadab5 (AUTHOR), Rezayi, Alireza6 (AUTHOR), Tonekaboni, Seyed Hassan2 (AUTHOR), Emameh, Reza Zolfaghari7 (AUTHOR), Houshmand, Massoud1,8 (AUTHOR) housh62@yahoo.com
Publikováno v:
Hereditas. 1/27/2022, Vol. 159 Issue 1, p1-11. 11p.
Autor:
Baria, Enrico1,2 (AUTHOR), Dallari, Caterina1,3 (AUTHOR) dallari@lens.unifi.it, Mattii, Francesco1 (AUTHOR), Pavone, Francesco Saverio1,2,3 (AUTHOR), Credi, Caterina1,3 (AUTHOR), Cicchi, Riccardo1,3 (AUTHOR), Morrone, Amelia4,5 (AUTHOR), Capitini, Claudia1,2 (AUTHOR), Calamai, Martino1,3 (AUTHOR) calamai@lens.unifi.it
Publikováno v:
Scientific Reports. 11/19/2024, Vol. 14 Issue 1, p1-11. 11p.
Autor:
Baglioni, Valentina1 (AUTHOR) valentina.baglioni@uniroma1.it, Bozza, Fabiola1 (AUTHOR) fabiola.bozza@uniroma1.it, Lentini, Giuliana1 (AUTHOR), Beatrice, Annachiara1 (AUTHOR), Cameli, Noemi1 (AUTHOR), Colacino Cinnante, Elisa Maria1 (AUTHOR), Terrinoni, Arianna1 (AUTHOR), Nardecchia, Francesca1 (AUTHOR), Pisani, Francesco1 (AUTHOR)
Publikováno v:
Journal of Clinical Medicine. Apr2024, Vol. 13 Issue 8, p2190. 29p.
Autor:
Jerves Serrano, Teodoro1 (AUTHOR) teodoro.jervesserrano@yale.edu, Gold, Jessica2 (AUTHOR) goldj@chop.edu, Cooper, James A.3 (AUTHOR) james.cooper@mft.nhs.uk, Church, Heather J.3 (AUTHOR) heather.church@mft.nhs.uk, Tylee, Karen L.3 (AUTHOR) karen.tylee@mft.nhs.uk, Wu, Hoi Yee3 (AUTHOR) hoiyee.wu@mft.nhs.uk, Kim, Sun Young4 (AUTHOR) sunyoung.kim@cchmc.org, Stepien, Karolina M.5,6 (AUTHOR) teodoro.jervesserrano@yale.edu
Publikováno v:
Journal of Clinical Medicine. Mar2024, Vol. 13 Issue 5, p1465. 19p.