Results 11 to 20 of about 14,349 (135)

Niemann-Pick Disease Type C

Pediatric Neurology Briefs, 1989
The neurologic symptomatology in 22 patients with Niemann-Pick disease type C have been analyzed and reported from the Developmental and Metabolic Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health ...
J Gordon Millichap
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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
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Difficult diagnosis. Niemann - Pick disease, type C

Медицинский совет, 2014
Modern diagnostic capabilities and improved medical knowledge allow to detect more diseases that were previously considered extremely rare. Along with the achievements of the pharmaceutical industry, timely diagnosis and adequate therapy often save the ...
L. S. Namazova-baranova, A. K. Gevorkyan, N. D. Vashakmadze, L. S. Vysotskaya, A. M. Mamedyarov, T. V. Margieva   +5 more
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Niemann-Pick type C disease

Journal of Lipid Research, 2002
We analyzed Niemann-Pick type C disease 1 (NP44406) gene in 12 patients with Niemann-Pick type C disease by sequencing both cDNA obtained from fibroblasts and genomic DNA. All the patients were compound heterozygotes.
Patrizia Tarugi, Giorgia Ballarini, Bruno Bembi, Carla Battisti, Silvia Palmeri, Francesca Panzani, Enza Di Leo, Cristina Martini, Antonio Federico, Sebastiano Calandra   +9 more
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A case of Niemann – Pick disease type C

Неврология, нейропсихиатрия, психосоматика, 2013
The paper describes a clinical case of a 27-year-old female patient with Niemann – Pick disease type C (NPC), a rare inherited orphan disease, belonging to a group of lipid storage diseases.
Sergei Anatolyevich Klyushnikov, O R Smirnov, E Yu Zakharova   +2 more
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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
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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
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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
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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
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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
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