巴顿病：一种癫痫性疾病的诊断之战。 - Suppr

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超能文献

Batten's Disease: A Seizure Disorder's Battle for Diagnosis.

作者信息

Dev Nishanth, Kumar Rahul, Sharma Shruti, Sharma M C

机构信息

Department of Medicine, VMMC & Safdarjung Hospital, New Delhi, India.

National Institute of Pathology, ICMR, Safdarjung Hospital, New Delhi, India.

出版信息

Ann Indian Acad Neurol. 2021 Nov-Dec;24(6):953-955. doi: 10.4103/aian.AIAN_769_20. Epub 2021 Jan 25.

DOI:10.4103/aian.AIAN_769_20

PMID:35359518

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8965944/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/afac/8965944/78b8dec58820/AIAN-24-953-g001.jpg

相似文献

Batten's Disease: A Seizure Disorder's Battle for Diagnosis.巴顿病：一种癫痫性疾病的诊断之战。

Ann Indian Acad Neurol. 2021 Nov-Dec;24(6):953-955. doi: 10.4103/aian.AIAN_769_20. Epub 2021 Jan 25.

Prenatal diagnosis of Batten's disease.巴顿病的产前诊断。

Lancet. 1996 Apr 13;347(9007):1014-5. doi: 10.1016/s0140-6736(96)90148-8.

Early-juvenile Batten's disease--a recognisable sub-group distinct from other forms of Batten's disease. Analysis of 5 patients.早发性青少年型巴滕病——一种与其他形式的巴滕病不同的可识别亚组。对5例患者的分析。

J Neurol Sci. 1978 Apr;36(2):265-71. doi: 10.1016/0022-510x(78)90087-4.

Dolichol metabolism in cultured skin fibroblasts from patients with "neuronal" ceroid lipofuscinosis (Batten's disease).“神经元型”蜡样脂褐质沉积病（巴顿病）患者培养皮肤成纤维细胞中的多萜醇代谢

J Inherit Metab Dis. 1984;7(3):112-6. doi: 10.1007/BF01801766.

Leucocyte glutathione peroxidase activity and selenium level in Batten's disease.巴顿病患者的白细胞谷胱甘肽过氧化物酶活性和硒水平

Scand J Clin Lab Invest. 1983 May;43(3):187-96.

Apoptosis as the mechanism of neurodegeneration in Batten's disease.凋亡作为巴滕病神经退行性变的机制。

J Neurochem. 1996 Aug;67(2):677-83. doi: 10.1046/j.1471-4159.1996.67020677.x.

[Ophthalmoscopic and fluorescence angiographic findings in a case of Batten's disease (author's transl)].[一例巴滕病患者的检眼镜及荧光血管造影检查结果（作者译）]

Klin Monbl Augenheilkd. 1978 Feb;172(2):169-72.

Recent biochemical and genetic advances in our understanding of Batten's disease (ceroid-lipofuscinosis).近期在我们对巴滕病（蜡样脂褐质沉积症）的认识方面取得的生物化学和遗传学进展。

Dev Neurosci. 1991;13(4-5):339-44. doi: 10.1159/000112183.

Acid phosphatase activity in lymphocytes from patients with Spielmeyer-Vogt-Batten's syndrome.施皮勒梅耶-福格特-巴滕综合征患者淋巴细胞中的酸性磷酸酶活性

J Clin Chem Clin Biochem. 1977 Nov;15(11):645-8. doi: 10.1515/cclm.1977.15.1-12.645.

Specific storage of subunit c of mitochondrial ATP synthase in lysosomes of neuronal ceroid lipofuscinosis (Batten's disease).线粒体ATP合酶亚基c在神经元蜡样脂褐质沉积症（巴滕病）溶酶体中的特异性储存。

J Biochem. 1992 Feb;111(2):278-82. doi: 10.1093/oxfordjournals.jbchem.a123749.

本文引用的文献

Current and Emerging Treatment Strategies for Neuronal Ceroid Lipofuscinoses.神经元蜡样脂褐质沉积症的现行和新兴治疗策略。

CNS Drugs. 2019 Apr;33(4):315-325. doi: 10.1007/s40263-019-00620-8.

Classification and natural history of the neuronal ceroid lipofuscinoses.神经元蜡样脂褐质沉积症的分类与自然病史。

J Child Neurol. 2013 Sep;28(9):1101-5. doi: 10.1177/0883073813494268. Epub 2013 Jul 9.

Juvenile neuronal ceroid lipofuscinosis (Batten disease) CLN3 mutation (Chrom 16p11.2) with different phenotypes in a sibling pair and low intensity in vivo autofluorescence.青少年神经元蜡样脂褐质沉积症（巴滕病）：同胞对中具有不同表型且体内自发荧光强度较低的CLN3突变（16号染色体p11.2）

Klin Monbl Augenheilkd. 2004 May;221(5):427-30. doi: 10.1055/s-2004-812819.

Neuronal ceroid lipofuscinosis: a clinicopathological study.神经元蜡样脂褐质沉积症：一项临床病理研究。

Seizure. 2004 Jun;13(4):235-40. doi: 10.1016/S1059-1311(03)00163-8.

The intracellular location and function of proteins of neuronal ceroid lipofuscinoses.神经元蜡样脂褐质沉积症蛋白质的细胞内定位与功能

Brain Pathol. 2004 Jan;14(1):77-85. doi: 10.1111/j.1750-3639.2004.tb00501.x.

Current state of clinical and morphological features in human NCL.人类神经元蜡样脂褐质沉积症的临床和形态学特征现状

Brain Pathol. 2004 Jan;14(1):61-9. doi: 10.1111/j.1750-3639.2004.tb00499.x.

Neuronal ceroid lipofuscinoses in Scandinavia. Epidemiology and clinical pictures.斯堪的纳维亚半岛的神经元蜡样脂褐质沉积症。流行病学与临床症状。

Neuropediatrics. 1997 Feb;28(1):6-8. doi: 10.1055/s-2007-973654.

Isolation of a novel gene underlying Batten disease, CLN3. The International Batten Disease Consortium.发现导致贝敦氏病的新基因CLN3。国际贝敦氏病协会。

Cell. 1995 Sep 22;82(6):949-57. doi: 10.1016/0092-8674(95)90274-0.

Juvenile Batten's disease: an ophthalmological assessment of 26 patients.青少年型巴滕病：26例患者的眼科评估

Br J Ophthalmol. 1980 Oct;64(10):726-32. doi: 10.1136/bjo.64.10.726.

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