Ceroid Lipofuscinosis in Children: Correspondence.
作者信息
Sookaromdee Pathum, Wiwanitkit Viroj
机构信息
Private Practice, Bangkok, Thailand.
Dr. Dnyandeo Yashwantrao Patil University (Deemed to be University), Pune, Maharashtra, India.
出版信息
J Pediatr Genet. 2022 Feb 21;11(2):171. doi: 10.1055/s-0042-1743193. eCollection 2022 Jun.
Abstract
摘要
相似文献
1
Ceroid Lipofuscinosis in Children: Correspondence.儿童蜡样脂褐质沉积症：通信
J Pediatr Genet. 2022 Feb 21;11(2):171. doi: 10.1055/s-0042-1743193. eCollection 2022 Jun.
2
The neuronal ceroid-lipofuscinoses.神经元蜡样脂褐质沉积症
J Child Neurol. 1995 Nov;10(6):424-37. doi: 10.1177/088307389501000602.
3
Oral cysteamine bitartrate and N-acetylcysteine for patients with infantile neuronal ceroid lipofuscinosis: a pilot study.口服酒石酸半胱胺和N-乙酰半胱氨酸治疗婴儿神经元蜡样脂褐质沉积症患者：一项初步研究。
Lancet Neurol. 2014 Aug;13(8):777-87. doi: 10.1016/S1474-4422(14)70142-5. Epub 2014 Jul 2.
4
Neuronal ceroid lipofuscinosis in Qatar: report of a novel mutation in ceroid-lipofuscinosis, neuronal 5 in the Arab population.卡塔尔的神经元蜡样脂褐质沉积症：阿拉伯人群中神经元蜡样脂褐质沉积症5型的一种新突变报告。
J Child Neurol. 2011 May;26(5):625-9. doi: 10.1177/0883073810387298. Epub 2011 Mar 29.
5
Profound infantile neuroretinal dysfunction in a heterozygote for the CLN3 genetic defect.CLN3基因缺陷杂合子中的严重婴儿神经视网膜功能障碍。
J Child Neurol. 2004 Jan;19(1):42-6. doi: 10.1177/08830738040190010703.
6
Unique Characteristics of the Photoparoxysmal Response in Patients With Neuronal Ceroid Lipofuscinosis Type 2: Can EEG Be a Biomarker?2型神经元蜡样脂褐质沉积症患者光阵发性反应的独特特征：脑电图能否作为生物标志物？
J Child Neurol. 2016 Nov;31(13):1475-1482. doi: 10.1177/0883073816658659. Epub 2016 Jul 21.
7
Novel Mutations in CLN5 of Chinese Patients With Neuronal Ceroid Lipofuscinosis.中国神经元蜡样脂褐质沉积症患者CLN5基因的新突变
J Child Neurol. 2018 Nov;33(13):837-850. doi: 10.1177/0883073818789024. Epub 2018 Sep 28.
8
Correlation between intrasinusoidal neutrophilic infiltration and ceroid-lipofuscinosis in alcoholic liver fibrosis with or without fatty change: clinicopathological comparison with nutritional fatty liver.伴或不伴脂肪变性的酒精性肝纤维化中肝窦内中性粒细胞浸润与蜡样脂褐质沉积症的相关性：与营养性脂肪肝的临床病理比较
Alcohol Clin Exp Res. 1996 Dec;20(9 Suppl):366A-370A.
9
Assessment of retinal function and characterization of lysosomal storage body accumulation in the retinas and brains of Tibetan Terriers with ceroid-lipofuscinosis.对患有蜡样脂褐质沉积症的西藏梗犬视网膜功能的评估以及视网膜和大脑中溶酶体储存体积累的特征分析。
Am J Vet Res. 2005 Jan;66(1):67-76. doi: 10.2460/ajvr.2005.66.67.
10
Late-infantile neuronal ceroid lipofuscinosis (CLN2/Jansky-Bielschowsky type) in Oman.阿曼的晚发性婴儿神经元蜡样脂褐质沉积症（CLN2/扬斯基-比尔斯科夫斯基型）
J Child Neurol. 2007 May;22(5):555-9. doi: 10.1177/0883073807302613.
本文引用的文献
1
Neuronal Ceroid Lipofuscinosis: Clinical and Laboratory Profile in Children from Tertiary Care Centre in South India.神经元蜡样脂褐质沉积症：印度南部三级医疗中心儿童的临床和实验室特征
J Pediatr Genet. 2020 Aug 4;10(4):266-273. doi: 10.1055/s-0040-1715575. eCollection 2021 Dec.
2
Neuronal Ceroid Lipofuscinoses in Children.儿童神经元蜡样脂褐质沉积症
Ann Indian Acad Neurol. 2021 Mar-Apr;24(2):192-197. doi: 10.4103/aian.AIAN_61_20. Epub 2021 Apr 28.
Zotero 插件