Results 71 to 80 of about 28,047,610 (162)

Hypoplasia of the corpus callosum in Niemann-Pick type C disease

, 1994
In two unrelated patients with Niemann-Pick type C disease MRI showed symmetrical cerebral and cerebellar atrophy and hypoplasia of the corpus callosum.
FEDERICO, A., PALMERI, S., BATTISTI, C., GUAZZI, G. C.   +3 more
core   +1 more source

Cognitive impairment profile in adult patients with Niemann pick type C disease

Orphanet Journal of Rare Diseases, 2017
Background Cognitive impairment is one of the core symptoms of Niemann Pick type C (NPC) disease, but few data concerning the neuropsychological profile of NPC patients are available.
Camille Heitz, Stéphane Epelbaum, Yann Nadjar   +2 more
doaj   +1 more source

Niemann-Pick disease type C: nodular splenomegaly.

, 1995
Niemann-Pick type C disease (NPCD) is an autosomal recessive storage lipidosis due to a disorder of cholesterol esterification leading to the accumulation of sphingomyelin and cholesterol in the brain, liver, and spleen.
Mentha G, Frank-Burkhardt SE, Seemayer TA, Terrier F, Omarini LP   +4 more
core   +1 more source

Investigation of Brain Iron in Niemann-Pick Type C: A 7T Quantitative Susceptibility Mapping Study

, 2023
BACKGROUND AND PURPOSE: While brain iron dysregulation has been observed in several neurodegenerative disorders, its association with the progressive neurodegeneration in Niemann-Pick type C is unknown.
Ravanfar, P, Velakoulis, D, Lyall, AE, Devenyi, GA, Desmond, P, Chakravarty, MM, Cropley, VL, Syeda, WT, Rushmore, RJ, Makris, N, Merritt, AH, Bush, AI, Moffat, B, Walterfang, M, Shenton, ME, Pantelis, C   +15 more
core   +1 more source

Distinct Niemann-Pick Disease Type C Clinical, Cytological, and Biochemical Phenotype in an Adult Patient With 1 Mutated, Overexpressed Allele

Journal of Inborn Errors of Metabolism and Screening, 2015
Niemann-Pick disease type C (NP-C) is a rare autosomal-recessive neurovisceral lysosomal storage disease. We report on a juvenile onset, now 25-year-old female patient with typical neurologic symptoms, including vertical gaze palsy, of NP-C.
Julia Jecel MD, Klaus Harzer MD, Eduard Paschke MD, Stefanie Beck-Wödl PhD, Peter Bauer MD, Milos Hejtman MD, Regina Katzenschlager MD   +6 more
doaj   +1 more source

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

Current advancements in therapy for Niemann-Pick disease: progress and pitfalls

, 2023
INTRODUCTION Niemann-Pick disease type C (NPC) is a rare, autosomal recessive, lysosomal storage disorder. To combat the progressive neurodegeneration in NPC, disease-modifying treatment needs to be introduced early in the course of the disease.
Tatiana Bremova-Ertl, Schneider, Susanne, Susanne Schneider, Bremova-Ertl, Tatiana   +3 more
core   +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