Results 61 to 70 of about 14,349 (135)

Miglustat therapy in the French cohort of paediatric patients with Niemann-Pick disease type C

Orphanet Journal of Rare Diseases, 2012
Background Niemann-Pick disease type C (NP-C) is a rare neurovisceral lysosomal lipid storage disease characterized by progressive neurological deterioration. Published data on the use of miglustat in paediatric patients in clinical practice settings are
Héron Bénédicte, Valayannopoulos Vassili, Baruteau Julien, Chabrol Brigitte, Ogier Hélène, Latour Philippe, Dobbelaere Dries, Eyer Didier, Labarthe François, Maurey Hélène, Cuisset Jean-Marie, de Villemeur Thierry, Sedel Frédéric, Vanier Marie T   +13 more
doaj   +1 more source

Altered vitamin E status in Niemann-Pick type C disease

Journal of Lipid Research, 2011
Vitamin E (α-tocopherol) is the major lipid-soluble antioxidant in many species. Niemann-Pick type C (NPC) disease is a lysosomal storage disorder caused by mutations in the NPC1 or NPC2 gene, which regulates lipid transport through the endocytic pathway.
L. Ulatowski, R. Parker, C. Davidson, N. Yanjanin, T.J. Kelley, D. Corey, J. Atkinson, F. Porter, H. Arai, S.U. Walkley, D. Manor   +10 more
doaj   +1 more source

Miglustat in Niemann-Pick disease type C patients: a review

Orphanet Journal of Rare Diseases, 2018
Objective Niemann-Pick disease type C (NP-C) is a rare, autosomal recessive, neurodegenerative disease associated with a wide variety of progressive neurological manifestations.
Mercè Pineda, Mark Walterfang, Marc C. Patterson   +2 more
doaj   +1 more source

Niemann-Pick disease type C: a case series of Brazilian patients

Arquivos de Neuro-Psiquiatria, 2014
The aim of the study was to analyze a series of Brazilian patients with Niemann-Pick disease type C (NP-C). Method Correlations between clinical findings, laboratory data, molecular findings and treatment response are presented.
Paulo José Lorenzoni, Elaine Cardoso, Ana C. S. Crippa, Charles Marques Lourenço, Fernanda Timm Seabra Souza, Roberto Giugliani, Maria Luiza Saraiva-Pereira, Salmo Raskin, Isac Bruck, Cláudia S. K. Kay, Rosana H. Scola, Lineu C.Werneck, Hélio A. G. Teive   +12 more
doaj   +1 more source

Requirement of Npc1 and availability of cholesterol for early embryonic cell movements in zebrafish[S]

Journal of Lipid Research, 2011
Niemann-Pick disease, type C (NP-C), often associated with Niemann-Pick disease, type C1 (NPC1) mu­tations, is a cholesterol-storage disorder characterized by cellular lipid accumulation, neurodegeneration, and reduced steroid production.
Tyler Schwend, Evyn J. Loucks, Diana Snyder, Sara C. Ahlgren   +3 more
doaj   +1 more source

Niemann-Pick Disease, Type A: Clinical Case of 5 Months Old Patient

Вопросы современной педиатрии
Background. Niemann-Pick disease, type A is a rare hereditary disease from the group of lysosomal storage diseases, it is characterized by early onset and progressive course. Description of this disease’s clinical cases is crucial for early diagnosis and
Nataliya V. Zhurkova, Nato V. Vashakmadze, Andrey N. Surkov, Tatiana V. Turti, Kristina V. Bogdanova, Yuliya Yu. Kotalevskaya, Ekaterina Yu. Zakharova, Leyla S. Namazova-Baranova   +7 more
doaj   +1 more source

Enhanced mGluR5 intracellular activity causes psychiatric alterations in Niemann Pick type C disease

Cell Death and Disease
Niemann-Pick disease Type C (NPC) is caused by mutations in the cholesterol transport protein NPC1 leading to the endolysosomal accumulation of the lipid and to psychiatric alterations.
Ana Toledano-Zaragoza, Violeta Enriquez-Zarralanga, Sara Naya-Forcano, Víctor Briz, Rocío Alfaro-Ruíz, Miguel Parra-Martínez, Daniel N. Mitroi, Rafael Luján, José A. Esteban, María Dolores Ledesma   +9 more
doaj   +1 more source

The expanding boundaries of sphingolipid lysosomal storage diseases; insights from Niemann-Pick disease type C. [PDF]

Biochem Soc Trans, 2023
Platt FM.
europepmc   +1 more source

Different solubilizing ability of cyclodextrin derivatives for cholesterol in Niemann-Pick disease type C treatment. [PDF]

Clin Transl Med, 2023
Yamada Y, Fukaura-Nishizawa M, Nishiyama A, Ishii A, Kawata T, Shirakawa A, Tanaka M, Kondo Y, Takeo T, Nakagata N, Miwa T, Takeda H, Orita Y, Motoyama K, Higashi T, Arima H, Seki T, Kurauchi Y, Katsuki H, Higaki K, Minami K, Yoshikawa N, Ikeda R, Matsuo M, Irie T, Ishitsuka Y.   +25 more
europepmc   +1 more source

An Australian standard of care for Niemann-Pick disease type C. [PDF]

Intern Med J
Tchan M, Smith N, Peters H, Van Velsen E, Marraffa C, Ellaway C, Cruz K, Mohammad SS, Kava M, Yaplito-Lee J, Balasubramaniam S, Rahman Y, Boot B, Bush A, Munro F, Hamoy L, Hung YH, Johnston P, Carpino D, Williams M, Kiss S, Quin R, Sutherland I, Walterfang M.   +23 more
europepmc   +1 more source