Results 1 to 10 of about 48,564 (222)

Plasma phosphorylated-tau217 is increased in Niemann-Pick disease type C. [PDF]

Brain Commun
Niemann–Pick disease type C and Alzheimer’s disease are distinct neurodegenerative disorders that share the presence of neurofibrillary tangle pathology.
Gonzalez-Ortiz F, Karikari TK, Taylor-Te Vruchte D, Shepherd D, Kirsebom BE, Fladby T, Platt F, Blennow K.   +7 more
europepmc   +5 more sources

Clinical disease characteristics of patients with Niemann-Pick Disease Type C: findings from the International Niemann-Pick Disease Registry (INPDR)

Orphanet Journal of Rare Diseases, 2022
Background Niemann-Pick Disease Type C (NPC) is an autosomal recessive rare disease characterised by progressive neurovisceral manifestations. The collection of on-going large-scale NPC clinical data may generate better understandings of the natural ...
Shaun C. Bolton, Vina Soran, Mercedes Pineda Marfa, Jackie Imrie, Paul Gissen, Helena Jahnova, Reena Sharma, Simon Jones, Saikat Santra, Ellen Crushell, Miriam Stampfer, Maria Jose Coll, Charlotte Dawson, Toni Mathieson, James Green, Andrea Dardis, Bruno Bembi, Marc C. Patterson, Marie T. Vanier, Tarekegn Geberhiwot   +19 more
doaj   +2 more sources

Consensus clinical management guidelines for acid sphingomyelinase deficiency (Niemann–Pick disease types A, B and A/B)

Orphanet Journal of Rare Diseases, 2023
Background Acid Sphingomyelinase Deficiency (ASMD) is a rare autosomal recessive disorder caused by mutations in the SMPD1 gene. This rarity contributes to misdiagnosis, delayed diagnosis and barriers to good care.
Tarekegn Geberhiwot, Melissa Wasserstein, Subadra Wanninayake, Shaun Christopher Bolton, Andrea Dardis, Anna Lehman, Olivier Lidove, Charlotte Dawson, Roberto Giugliani, Jackie Imrie, Justin Hopkin, James Green, Daniel de Vicente Corbeira, Shyam Madathil, Eugen Mengel, Fatih Ezgü, Magali Pettazzoni, Barbara Sjouke, Carla Hollak, Marie T. Vanier, Margaret McGovern, Edward Schuchman   +21 more
doaj   +2 more sources

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

Neurology Clinical Practice, 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   +4 more sources

Niemann-Pick disease type C

Orphanet Journal of Rare Diseases, 2010
Niemann-Pick C disease (NP-C) is a neurovisceral atypical lysosomal lipid storage disorder with an estimated minimal incidence of 1/120 000 live births.
Vanier Marie T
doaj   +2 more sources

Diagnostic tests for Niemann-Pick disease type C (NP-C): A critical review [PDF]

Molecular Genetics and Metabolism, 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   +3 more sources

Niemann-Pick disease [PDF]

Turkish Journal of Hematology, 2011
Serap Karaman, Tiraje Celkan
doaj   +4 more sources

Lysosomal and Mitochondrial Liaisons in Niemann-Pick Disease

Frontiers in Physiology, 2017
Lysosomal storage disorders (LSD) are characterized by the accumulation of diverse lipid species in lysosomes. Niemann-Pick type A/B (NPA/B) and type C diseases Niemann-Pick type C (NPC) are progressive LSD caused by loss of function of distinct ...
Sandra Torres, Sandra Torres, Elisa Balboa, Silvana Zanlungo, Carlos Enrich, Carmen Garcia-Ruiz, Carmen Garcia-Ruiz, Carmen Garcia-Ruiz, Jose C. Fernandez-Checa, Jose C. Fernandez-Checa, Jose C. Fernandez-Checa   +10 more
doaj   +2 more sources

Niemann-Pick disease type C

Definitions, 2020
Niemann-Pick Disease, Type C (NPD-C) is an autosomal recessive lipid storage disorder caused by a defect in esterification of exogenously derived low-density lipoprotein cholesterol.
W. Greer, D. Riddell, D. Byers, P. J, Welch, G. Girouard, M. S., Sparrow, T. Gillan, P. Neumann   +9 more
semanticscholar   +2 more sources

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