Atypical presentation of neuronal ceroid lipofuscinosis type 8 in a sibling pair and review of the eye findings and neurological features

机译：同胞对中非典型性神经元8类脂褐藻病的表现以及对眼部表现和神经系统特征的回顾

代理获取

本网站仅为用户提供外文OA文献查询和代理获取服务，本网站没有原文。下单后我们将采用程序或人工为您竭诚获取高质量的原文，但由于OA文献来源多样且变更频繁，仍可能出现获取不到、文献不完整或与标题不符等情况，如果获取不到我们将提供退款服务。请知悉。

页面导航

摘要
著录项
相似文献
相关主题

摘要

PurposeTo report atypical presentation of neuronal ceroid lipofuscinoses type 8 (CLN8) to the eye clinic and review clinical features of CLN8.

机译：目的向眼科诊所报告8型神经元类脂褐藻糖糖（CLN8）的非典型表现，并复习CLN8的临床特征。

著录项

期刊名称 American Journal of Ophthalmology Case Reports
作者
Rossana L. Sanchez; Jiong Yan; Sarah Richards; Gary Mierau; Eric P. Wartchow; Christin D. Collins; Suma P. Shankar;
展开▼
作者单位

展开▼
年(卷),期 2016(4),-1
年度 2016
页码 50–53
总页数 4
原文格式 PDF
正文语种
中图分类眼科学;
关键词
Chromosome microarray Epilepsy Lysosomal storage disorder Neuronal ceroid lipofuscinosis Next generation sequencing panel Vision loss;

机译：染色体微阵列;癫痫;溶酶体贮积症;神经元类脂褐藻病;下一代测序小组;视力丧失;

相似文献

外文文献
中文文献
专利

1. Atypical presentation of neuronal ceroid lipofuscinosis type 8 in a sibling pair and review of the eye findings and neurological features [J] . Rossana L. Sanchez, Jiong Yan, Sarah Richards, American Journal of Ophthalmology Case Reports . 2016,第5期

机译：同胞对中非典型性神经元8类脂褐藻病的表现以及对眼部表现和神经系统特征的回顾
2. Juvenile Neuronal Ceroid Lipofuscinosis A Rare Case Report with Literature Review in a Siblings Pair Having Cardiac Involvement [J] . Mousa Suhail Abu Ghoush, Mahfoud El. Bashari, Amani Alzaabi, American Journal of Medical Case Reports . 2020,第12期

机译：青少年神经元蛋白脂蛋白是一个罕见的案例报告，兄弟姐妹对具有心脏受累的兄弟姐妹
3. Altered biometal homeostasis is associated with CLN6 mRNA loss in mouse neuronal ceroid lipofuscinosis Altered biometal homeostasis is associated with CLN6 mRNA loss in mouse neuronal ceroid lipofuscinosis Altered biometal homeostasis is associated with CLN6 mRNA loss in mouse neuronal ceroid lipofuscinosis [J] . George Ganio, Anthony R. White, Aphrodite Caragounis, Biology Open . 2013,第6期

机译：改变的生物金属稳态与小鼠神经元类固醇脂褐变中的CLN6 mRNA丢失有关改变的生物金属稳态与小鼠神经元类固醇脂褐变中的CLN6 mRNA丢失相关
4. Multiplex Enzymatic Assay for Newborn Screening of Mucopolysaccharidoses (type II, IIIB, IVA, VI, VII) and Neuronal Ceroid Lipofuscinosis II [C] . Yang Liu, Zdenek Spacil, Hsuan-Chieh Liao, ASMS Conference on Mass Spectrometry and Allied Topics . 2016

机译：用于新生儿筛选的多重酶测定（II型，IIIB，IVA，VI，VII）和神经元曲线痘痘II
5. Nonsense-mediated decay and neuronal ceroid lipofuscinosis: Utilizing nonsense suppression as a therapeutic tool to enhance functional protein activity. [D] . Miller, Jake N. 2014

机译：废话介导的衰变和神经元类脂褐藻病：利用废话抑制作为增强功能蛋白活性的治疗工具。
6. Ovine neuronal ceroid lipofuscinosis: a large animal model syntenic with the human neuronal ceroid lipofuscinosis variant CLN6. [O] . M F Broom, C Zhou, J E Broom, 1998

机译：绵羊神经元类脂褐藻病：一种大型动物模型与人类神经元类脂褐藻病变体CLN6相似。
7. Atypical presentation of neuronal ceroid lipofuscinosis type 8 in a sibling pair and review of the eye findings and neurological features [O] . Rossana L. Sanchez, Jiong Yan, Sarah Richards, 2016

机译：在同胞对中出现8型神经元蜡样脂褐质沉积症的非典型表现及对眼部发现和神经功能的回顾

Atypical presentation of neuronal ceroid lipofuscinosis type 8 in a sibling pair and review of the eye findings and neurological features

摘要

著录项

相似文献

相关主题

期刊订阅