Results 21 to 30 of about 28,047,610 (162)

Nutrition management of Niemann Pick disease type C: A case report

Endocrine Regulations, 2021
Objectives. We aim to report the clinical repercussions of a nutritional approach in a patient diagnosed with Niemann Pick disease type C (NPC) using miglustat as pharmacological therapy.
Viana dos Santos Rejane, das Neves Ferreira Tamila, Oliveira de Almeida Daniela, Brito da Silva Fatal Lilian, Queiroz Araujo Edilene Maria   +4 more
doaj   +1 more source

Use of miglustat in a child with late-infantile-onset Niemann-Pick disease type C and frequent seizures: a case report

Journal of Medical Case Reports, 2012
Introduction Niemann-Pick disease type C is a rare genetic lysosomal storage disease associated with impaired intracellular lipid trafficking and a range of progressive neurological manifestations.
Skorpen Johannes, Helland Ingrid B, Tennøe Bjørn   +2 more
doaj   +1 more source

Bidirectional links between Alzheimer's disease and Niemann–Pick type C disease

Neurobiology of Disease, 2014
Alzheimer's disease (AD) and Niemann–Pick type C (NPC) disease are progressive neurodegenerative diseases with very different epidemiology and etiology.
Martina Malnar, Silva Hecimovic, Niklas Mattsson, Henrik Zetterberg   +3 more
doaj   +1 more source

Niemann-Pick type C fibroblasts are resistant against GalSph- and GlcSph-induced cell death.

, 2022
(A-C) Death of fibroblasts from healthy controls or patients with Niemann-Pick type C disease (NPC) treated with indicated concentrations of GalSph (A), GlcSph (B), or ebastine (C) for 48 hours was determined as in Fig 1A.
Kamilla Stahl-Meyer (14149669), Lya K. K. Holland (14149672), Kenji Maeda (167242), Mesut Bilgin (836642), Nikolaj Havnsøe Torp Petersen (14149678), Jonathan Stahl-Meyer (14149675), Marja Jäättelä (127022), Thomas Kirkegaard (267655)   +7 more
core   +1 more source

Niemann Pick disease: a rare lysosomal storage disease

Bangabandhu Sheikh Mujib Medical University Journal, 2023
Niemann Pick Disease (NPD) is a rare autosomal recessive lysosomal storage disease characterized by lysosomal lipid storage. The disease is caused by deficiency of enzyme, acid sphingomyelinase (ASM) which leads to accumulation of sphingomyelin & other ...
Gopen Kumar Kundu, Sk Serjina Anwar, Noor A Sabah Liza, Syeda Tabassum Alam, Sanjida Ahmed, Mohammad Arbab Sarker, Meher Nigar Nishi, Sharmina Afrin, Mohammad Abdul Quddus   +8 more
doaj   +1 more source

Generation of the Niemann–Pick type C2 patient-derived iPSC line AKOSi001-A

Stem Cell Research, 2019
Niemann-Pick disease Type C (NPC) is a rare progressive neurodegenerative disorder with an incidence of 1:120,000 caused by mutations in the NPC1 or NPC2 gene. Only 5% of NPC patients suffer from mutations of the NPC2 gene.
Christin Völkner, Franziska Peter, Maik Liedtke, Saskia Krohn, Iris Lindner, Hugo Murua Escobar, Chiara Cimmaruta, Jan Lukas, Andreas Hermann, Moritz J. Frech   +9 more
doaj   +1 more source

“Double Hit” Homozygous Mutations for Two Different Rare Inborn Errors of Metabolism: A Burden for Countries with High Prevalences of Consangineous Marriages

Journal of Pediatric Research, 2018
Inborn errors of metabolism comprise a broad range of genetic diseases of which most are inherited in an autosomal recessive manner. Although being rare, there is a significant increase in their rate especially in countries where consanguineous marriages
Asburçe Olgaç, Leyla Tümer, Serdar Ceylaner, Gürsel Biberoğlu, Alev Hasanoğlu   +4 more
doaj   +1 more source

Niemann–Pick Disease Type C Associated with Fuchs Heterochromic Iridocyclitis

Advanced Biomedical Research, 2017
In this study, we report a 26-year-old female case of Niemann–Pick disease type C in association with Fuchs heterochromic iridocyclitis who was admitted with the complaint of ocular pain and redness following trauma.
Farzan Kianersi, Seyed Ali Sonbolestan
doaj   +1 more source

Mitochondrial Cholesterol in Alzheimer's Disease and Niemann–Pick Type C Disease

Frontiers in Neurology, 2019
Mitochondrial dysfunction has been recognized as a key player in neurodegenerative diseases, including Alzheimer's disease (AD) and Niemann–Pick type C (NPC) disease.
Sandra Torres, Sandra Torres, Carmen M. García-Ruiz, Carmen M. García-Ruiz, Carmen M. García-Ruiz, Jose C. Fernandez-Checa, Jose C. Fernandez-Checa, Jose C. Fernandez-Checa   +7 more
doaj   +1 more source

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   +1 more source