Works matching Niemann-Pick Disease
Results: 1450
Lung cyst: An unusual manifestation of Niemann–Pick disease.
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- Respirology, 2009, v. 14, n. 1, p. 134, doi. 10.1111/j.1440-1843.2008.01352.x
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- Article
Niemann-Pick hastalaca tip A ve tip B: İki olgu sunumu.
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- Marmara Medical Journal, 2014, v. 27, n. 1, p. 54, doi. 10.5472/MMJ.2013.02845.2
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- Article
Вариация на cherry red spot при болестта на Niemann-Pick – клиничен случай.
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- Medical Review / Meditsinski Pregled, 2023, v. 59, n. 4, p. 60
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- Article
Niemann–Pick disease type C1 presenting with psychosis in an adolescent male.
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- 2009
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- Report
Systemic lupus erythematosus occurring in a patient with Niemann–Pick type B disease.
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- 2015
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- Case Study
Pulmonary Involvement in Niemann-Pick Disease: A State-of-the-Art Review.
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- Lung, 2016, v. 194, n. 4, p. 511, doi. 10.1007/s00408-016-9893-0
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- Article
Phenotypic heterogeneity of Niemann-Pick disease type C in monozygotic twins.
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- Journal of Neurology, 2015, v. 262, n. 3, p. 642, doi. 10.1007/s00415-014-7619-x
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- Article
Case Report: Be Aware of "New" Features of Niemann–Pick Disease: Insights From Two Pediatric Cases.
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- Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.845246
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- Article
Novel Mutation in the Feline NPC2 Gene in Cats with Niemann–Pick Disease.
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- Animals (2076-2615), 2023, v. 13, n. 11, p. 1744, doi. 10.3390/ani13111744
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- Article
Niemann- Pick disease type C1 predominantly involving the frontotemporal region, with cortical and brainstem Lewy bodies: An autopsy case.
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- Neuropathology, 2014, v. 34, n. 1, p. 49, doi. 10.1111/neup.12047
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- Article
Impact of miglustat on evolution of atypical presentation of late-infantile-onset Niemann-Pick disease type C with early cognitive impairment, behavioral dysfunction, epilepsy, ophthalmoplegia, and cerebellar involvement: a case report.
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- 2016
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- journal article
Visceral symptoms as a key diagnostic sign for the early infantile form of Niemann-Pick disease type C in a Russian patient: a case report.
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- 2016
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- journal article
Use of miglustat in a child with late-infantile-onset Niemann-Pick disease type C and frequent seizures: a case report.
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- 2012
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- journal article
Feline Niemann-Pick Disease With a Novel Mutation of SMPD1 Gene.
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- Veterinary Pathology, 2020, v. 57, n. 4, p. 559, doi. 10.1177/0300985820921810
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- Article
Novel compound heterozygous mutations of the NPC1 gene associated with Niemann-pick disease type C: a case report and review of the literature.
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- BMC Infectious Diseases, 2024, v. 24, n. 1, p. 1, doi. 10.1186/s12879-024-09025-5
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- Article
A human iPSC-derived inducible neuronal model of Niemann-Pick disease, type C1.
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- BMC Biology, 2021, v. 19, n. 1, p. 1, doi. 10.1186/s12915-021-01133-x
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- Article
Niemann-Pick type C disease: a novel NPC1 mutation segregating in a Greek island.
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- Clinical Genetics, 2014, v. 85, n. 6, p. 543, doi. 10.1111/cge.12200
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- Article
Identification of seven novel SMPD1 mutations causing Niemann-Pick disease types A and B.
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- Clinical Genetics, 2013, v. 84, n. 4, p. 356, doi. 10.1111/cge.12076
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- Article
Cholesterol storage and tau pathology in Niemann-Pick type C disease in the brain.
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- Journal of Pathology, 2003, v. 200, n. 1, p. 104, doi. 10.1002/path.1320
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- Article
Alterations of myelin-specific proteins and sphingolipids characterize the brains of acid sphingomyelinase-deficient mice, an animal model of Niemann–Pick disease type A.
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- Journal of Neurochemistry, 2009, v. 109, n. 1, p. 105, doi. 10.1111/j.1471-4159.2009.05947.x
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- Article
Niemann-Pick disease.
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- International Journal of Child Health & Human Development, 2020, v. 13, n. 3, p. 273
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- Article
Priapism associated with Niemann-Pick disease in a 15-year-old boy.
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- 2011
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- Case Study
Overview of clinical, molecular, and therapeutic features of Niemann–Pick disease (types A, B, and C): Focus on therapeutic approaches.
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- Cell Biochemistry & Function, 2024, v. 42, n. 4, p. 1, doi. 10.1002/cbf.4028
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- Article
Clinical and genetic analysis of Niemann-Pick disease type C with a novel NPC1 variant.
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- Journal of Rare Diseases, 2024, v. 3, n. 1, p. 1, doi. 10.1007/s44162-024-00043-0
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- Article
A Case with Niemann-Pick Disease and Concomitant Kartagener's Syndrome.
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- Erciyes Medical Journal / Erciyes Tip Dergisi, 2013, v. 35, n. 3, p. 174, doi. 10.5152/etd.2013.29
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- Article
Náhodný nález splenomegalie jako hlavní příznak vedoucí k diagnóze Niemann-Pickovy choroby typu B u dospělého pacienta.
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- Medicina Pro Praxi, 2023, v. 20, n. 2, p. 112, doi. 10.36290/med.2023.016
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- Article
Effects of Miglustat on Stabilization of Neurological Disorder in Niemann–Pick Disease Type C: Iranian Pediatric Case Series.
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- 2013
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- Case Study
Niemann-Pick Disease Type C: Implications for Sedation and Anesthesia for Diagnostic Procedures.
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- Journal of Child Neurology, 2012, v. 27, n. 12, p. 1541, doi. 10.1177/0883073812437243
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- Article
Long-Term Miglustat Therapy in Children With Niemann-Pick Disease Type C.
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- Journal of Child Neurology, 2010, v. 25, n. 3, p. 300, doi. 10.1177/0883073809344222
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- Article
Manifestações clínicas presentes na doença de Niemann-Pick tipo c em diferentes faixas etárias: uma revisão da literatura.
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- Revista Sustinere, 2021, v. 9, p. 173, doi. 10.12957/sustinere.2021.50914
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- Article
Niemann-Pick disease type C2 protein induces autophagy and inhibits growth in FM3A breast cancer cells.
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- Drug Discoveries & Therapeutics, 2015, v. 9, n. 4, p. 282, doi. 10.5582/ddt.2015.01014
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- Article
First prenatal Diagnosis of a Niemann–pick Disease type C2 Revealed by a Cystic Hygroma: A Case Report and Review of the Literature.
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- 2018
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- Case Study
Mutational spectrum of SMPD1 gene in Pakistani Niemann-Pick disease patients.
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- Pakistan Journal of Medical Sciences, 2020, v. 36, n. 3, p. 479, doi. 10.12669/pjms.36.3.467
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- Article
Brain hypometabolism in rare genetic neurodegenerative disease: Niemann-Pick disease type C, spinocerebellar ataxia and Huntington disease assessed by FDG PET.
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- Asia Oceania Journal of Nuclear Medicine & Biology, 2021, v. 9, n. 2, p. 167, doi. 10.22038/AOJNMB.2020.52511.1362
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- Article
Niemann-Pick disease type C: mutations of NPC1 gene and the course of disease.
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- Paediatria Croatica, 2014, v. 58, n. 4, p. 255, doi. 10.13112/PC.2014.45
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- Article
The Genetic Basis, Lung Involvement, and Therapeutic Options in Niemann–Pick Disease: A Comprehensive Review.
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- Biomolecules (2218-273X), 2024, v. 14, n. 2, p. 211, doi. 10.3390/biom14020211
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- Article
Different solubilizing ability of cyclodextrin derivatives for cholesterol in Niemann–Pick disease type C treatment.
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- Clinical & Translational Medicine, 2023, v. 13, n. 8, p. 1, doi. 10.1002/ctm2.1350
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- Article
Adult-Onset Niemann-Pick Disease Type C: Rapid Treatment Initiation Advised but Early Diagnosis Remains Difficult.
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- Frontiers in Neurology, 2017, v. 8, p. 1, doi. 10.3389/fneur.2017.00108
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- Article
A Potential Role for the Amyloid Precursor Protein in the Regulation of Interferon Signaling, Cholesterol Homeostasis, and Tau Phosphorylation in Niemann–Pick Disease Type C.
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- Genes, 2024, v. 15, n. 8, p. 1066, doi. 10.3390/genes15081066
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- Article
Differential Interferon Signaling Regulation and Oxidative Stress Responses in the Cerebral Cortex and Cerebellum Could Account for the Spatiotemporal Pattern of Neurodegeneration in Niemann–Pick Disease Type C.
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- Genes, 2024, v. 15, n. 1, p. 101, doi. 10.3390/genes15010101
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- Article
Sterol O-Acyltransferase 1 (SOAT1): A Genetic Modifier of Niemann-Pick Disease, Type C1.
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- International Journal of Molecular Sciences, 2024, v. 25, n. 8, p. 4217, doi. 10.3390/ijms25084217
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- Article
In Silico Analysis of the Molecular-Level Impact of SMPD1 Variants on Niemann-Pick Disease Severity.
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- International Journal of Molecular Sciences, 2021, v. 22, n. 9, p. 4516, doi. 10.3390/ijms22094516
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- Article
Intracerebroventricular Treatment with 2-Hydroxypropyl-β-Cyclodextrin Decreased Cerebellar and Hepatic Glycoprotein Nonmetastatic Melanoma Protein B (GPNMB) Expression in Niemann–Pick Disease Type C Model Mice.
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- International Journal of Molecular Sciences, 2021, v. 22, n. 1, p. 452, doi. 10.3390/ijms22010452
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- Article
Identification of Novel Pathways Associated with Patterned Cerebellar Purkinje Neuron Degeneration in Niemann-Pick Disease, Type C1.
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- International Journal of Molecular Sciences, 2020, v. 21, n. 1, p. 292, doi. 10.3390/ijms21010292
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- Article
Structural Determination of Lysosphingomyelin-509 and Discovery of Novel Class Lipids from Patients with Niemann–Pick Disease Type C.
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- International Journal of Molecular Sciences, 2019, v. 20, n. 20, p. 5018, doi. 10.3390/ijms20205018
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- Article
Niemann-Pick Type A Disease: Behavior of Neutral Sphingomyelinase and Vitamin D Receptor.
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- International Journal of Molecular Sciences, 2019, v. 20, n. 9, p. 2365, doi. 10.3390/ijms20092365
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- Article
In Vitro and In Vivo Evaluation of 6-O-α-Maltosyl-β-Cyclodextrin as a Potential Therapeutic Agent Against Niemann-Pick Disease Type C.
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- International Journal of Molecular Sciences, 2019, v. 20, n. 5, p. 1152, doi. 10.3390/ijms20051152
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- Article
Alleged Detrimental Mutations in the SMPD1 Gene in Patients with Niemann-Pick Disease.
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- International Journal of Molecular Sciences, 2015, v. 16, n. 6, p. 13649, doi. 10.3390/ijms160613649
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- Article
Four Novel p.N385K, p.V36A, c.1033-1034insT and c.1417-1418delCT Mutations in the Sphingomyelin Phosphodiesterase 1 (SMPD1) Gene in Patients with Types A and B Niemann-Pick Disease (NPD).
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- International Journal of Molecular Sciences, 2015, v. 16, n. 4, p. 6668, doi. 10.3390/ijms16046668
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- Article
Pediatric liver transplantation for neonatal‐onset Niemann‐Pick disease type C: Japanese multicenter experience.
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- Pediatric Transplantation, 2019, v. 23, n. 5, p. N.PAG, doi. 10.1111/petr.13462
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- Article