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本文引用的文献

1
The Niemann-Pick type diseases - A synopsis of inborn errors in sphingolipid and cholesterol metabolism.尼曼-匹克病类——鞘脂和胆固醇代谢先天性错误简述。
Prog Lipid Res. 2023 Apr;90:101225. doi: 10.1016/j.plipres.2023.101225. Epub 2023 Mar 31.
2
Niemann-Pick Disease, Type C: Diagnosis, Management and Disease-Targeted Therapies in Development.尼曼-匹克病 C 型：诊断、管理和正在开发的疾病靶向治疗。
Semin Pediatr Neurol. 2021 Apr;37:100879. doi: 10.1016/j.spen.2021.100879. Epub 2021 Feb 12.
3
Treatment outcomes following continuous miglustat therapy in patients with Niemann-Pick disease Type C: a final report of the NPC Registry.尼曼-匹克病 C 型患者连续接受米格列奈治疗的治疗结果：NPC 登记处的最终报告。
Orphanet J Rare Dis. 2020 Apr 25;15(1):104. doi: 10.1186/s13023-020-01363-2.
4
Niemann-Pick type C: contemporary diagnosis and treatment of a classical disorder.尼曼-匹克C型病：一种经典疾病的当代诊断与治疗
Pract Neurol. 2019 Oct;19(5):420-423. doi: 10.1136/practneurol-2019-002236. Epub 2019 Jun 26.
5
Recommendations for the detection and diagnosis of Niemann-Pick disease type C: An update.尼曼-匹克病C型检测与诊断的建议：最新进展
Neurol Clin Pract. 2017 Dec;7(6):499-511. doi: 10.1212/CPJ.0000000000000399.
6
A novel, highly sensitive and specific biomarker for Niemann-Pick type C1 disease.一种用于尼曼-皮克C1型病的新型、高灵敏度和高特异性生物标志物。
Orphanet J Rare Dis. 2015 Jun 17;10:78. doi: 10.1186/s13023-015-0274-1.
7
Efficacy of 2-Hydroxypropyl-β-cyclodextrin in Niemann-Pick Disease Type C Model Mice and Its Pharmacokinetic Analysis in a Patient with the Disease.2-羟丙基-β-环糊精在尼曼-匹克病 C 型模型小鼠中的疗效及其在该病患者中的药代动力学分析。
Biol Pharm Bull. 2015;38(6):844-51. doi: 10.1248/bpb.b14-00726.
8
High incidence of unrecognized visceral/neurological late-onset Niemann-Pick disease, type C1, predicted by analysis of massively parallel sequencing data sets.通过对大规模平行测序数据集的分析预测，未被识别的C1型尼曼-匹克病内脏/神经迟发性发病率高。
Genet Med. 2016 Jan;18(1):41-8. doi: 10.1038/gim.2015.25. Epub 2015 Mar 12.
9
Niemann-Pick disease type C symptomatology: an expert-based clinical description.尼曼-匹克病 C 型的症状表现：基于专家的临床描述。
Orphanet J Rare Dis. 2013 Oct 17;8:166. doi: 10.1186/1750-1172-8-166.
10
The pathogenesis of Niemann-Pick type C disease: a role for autophagy?尼曼-皮克C型病的发病机制：自噬起作用吗？
Expert Rev Mol Med. 2008 Sep 10;10:e26. doi: 10.1017/S146239940800080X.

Neimann-Pick Disease Presenting as a Case of Severe Dementia and Seizures.

作者信息

Rajan Greeshmendu, Iype Mary, Sreedharan Mini, Ahamed Shahanaz, Hariharan Sankar V, Raveendran Reshmi, Lal Roshni R, Sahu Priyanka, Perween Shama, Beena Neeraja

机构信息

Department of Pediatric Neurology, Government Medical College, Thiruvananthapuram, Kerala, India.

Department of Pediatrics, Government Medical College, Thiruvananthapuram, Kerala, India.

出版信息

Ann Indian Acad Neurol. 2025 Jan 1;28(1):135-137. doi: 10.4103/aian.aian_601_24. Epub 2024 Dec 4.

DOI:10.4103/aian.aian_601_24
PMID:39632403
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11892960/
Abstract
摘要