云南高校图书馆联盟文献共享服务平台- GAUCHER

GAUCHER: 作品数：19被引量：11H指数：2; 导出分析报告; 相关领域：医药卫生更多>>; 相关作者：朱小东张阳根谢志雄武焕玲李爱芝更多>>; 相关机构：解放军第175医院山东省立医院宁波市妇女儿童医院广西医科大学第一附属医院更多>>; 相关期刊：《China Medical Abstracts(Internal Medicine)》《Neuroscience Bulletin》《Open Journal of Genetics》《中国优生与遗传杂志》更多>>; 相关基金：国家自然科学基金更多>>

Clinical,mechanistic,biomarker,and therapeutic advances in GBA1-associated Parkinson’s disease: 《Translational Neurodegeneration》2024年第1期356-376,共21页Xuxiang Zhang Heng Wu Beisha Tang Jifeng Guo; supported by the National Key Plan for Scientific Research and Development of China(2021YFC2501204);the National Key R&D Program of China(2021YFC2502100);the National Natural Science Foundation of China(81873785,82071439,81974202,U20A20355);Technology Major Project of Hunan Provincial Science and Technology Department(2021SK1010);the Innovation-driven Team Project from Central South University(2020CX016);the Innovative Team Program from the Department of Science&Technology of Hunan Province(2019RS1010).; Parkinson’s disease(PD)is the second most common neurodegenerative disease.The development of PD is closely linked to genetic and environmental factors,with GBA1 variants being the most common genetic risk.Mutations ...; 关键词：Gaucher’s disease Parkinson’s disease GLUCOCEREBROSIDASE Mechanisms BIOMARKER Therapy

Natural history and management of liver dysfunction in lysosomal storage disorders被引量：2: 《World Journal of Hepatology》2022年第10期1844-1861,共18页Moinak Sen Sarma Parijat Ram Tripathi; Lysosomal storage disorders(LSD)are a rare group of genetic disorders.The major LSDs that cause liver dysfunction are disorders of sphingolipid lipid storage[Gaucher disease(GD)and Niemann-Pick disease]and lysosomal a...; 关键词：LYSOSOMAL GAUCHER Niemann-Pick Wolman Cholesteryl ester CHILDREN

Inhibition of PI4KIII α as a Novel Potential Approach for Gaucher Disease Treatment: 《Neuroscience Bulletin》2021年第8期1234-1239,共6页Linan Zheng Feng Hong Fude Huang Wenan Wang; the National Natural Science Foundation of China(81771416,81650110527,and 8197100);Shanghai Municipal Commission of Health and Family Planning(201740153);Key Discipline of Chongming District,Shanghai,China,2018.; Dear Editor,Gaucher disease(GD)is the most common lysosomal storage disease(LSD)caused by an insufficiency of the lysosomal enzyme glucocerebrosidase(GCase)[1].GCase insufficiency produces the excessive lysosomal accu...; 关键词：INSUFFICIENCY ORGANS GAUCHER

Cross-talks among GBA mutations,glucocerebrosidase,and a-synuclein in 66/4-associated Parkinson's disease and their targeted therapeutic approaches:a comprehensive review被引量：3: 《Translational Neurodegeneration》2021年第1期27-39,共13页Tapan Behl Gagandeep Kaur Ovidiu Fratila Camelia Buhas Claudia Teodora Judea-Pusta Nicoleta Negrut Cristiana Bustea Simona Bungau; Current therapies for Parkinson's disease(PD)are palliative,of which the levodopa/carbidopa therapy remains the primary choice but is unable to modulate the progression of neurodegeneration.Due to the complication of ...; 关键词：Parkinson's disease Glycosylceramidase GLUCOCEREBROSIDASE Gaucher's disease MUTATIONS Α-SYNUCLEIN

Quality of life of 22 patients with type 1 Gaucher disease after enzyme replacement therapy: 《China Medical Abstracts(Internal Medicine)》2020年第2期71-72,共2页LI Hongmin; Objective To investigate the living status and quality of life(QOL)in typel Gaucher disease(GD1)patients who underwent long-term enzyme replacement therapy(ERT)and identify possible relevant factors affecting QOL.Meth...; 关键词：PATIENTS DIAGNOSIS GAUCHER

Gaucher disease in Montenegro-genotype/phenotype correlations:Five cases report: 《World Journal of Clinical Cases》2019年第12期1475-1482,共8页Snezana Vujosevic Sanja Medenica Vesko Vujicic Milena Dapcevic Nikola Bakic Ruhua Yang Jun Liu Pramod K Mistry; BACKGROUND The most common lysosomal storage disorder is Gaucher disease (GD). It is a deficiency of lysosomal glucocerebrosidase (GBA) due to biallelic mutations in the GBA gene, characterized by the deposition of gl...; 关键词：GAUCHER disease LYSOSOMAL storage disorder GLUCOCEREBROSIDASE GBA gene sequencing GENOTYPE Case REPORT

A Novel Functional Missense Mutation p.T219A in Type Gaucher＇s Disease: 《Chinese Medical Journal》2016年第9期1072-1077,共6页Lin-Yu Liu Fei Liu Si-Chen Du Sha-Yi Jiang Hui-Jun Wang Jin Zhang Wei Wang Duan Ma; This study was supported by grants from Natural Science Foundation of China （No. 81371269） and Shanghai Research Program （No. 14140902600, No. 2013ZYJB0015, and No. 14DJ 1400103）.; Background： Gaucher＇s disease （GD） is an autosomal recessive disorder caused by a deficiency of acid β-glucosidase （glucocerebrosidase [GBA]） that results in the accumulation of glucocerebroside within macropha...; 关键词：Gaucher＇s Disease GCase GENETICS Novel Missense Mutation

Imaging of gaucher disease被引量：3: 《World Journal of Radiology》2014年第9期657-668,共12页William L Simpson George Hermann Manisha Balwani; Gaucher disease is the prototypical lysosomal storage disease.It results from the accumulation of undegrad-ed glucosylceramide in the reticuloendothelial system of the bone marrow,spleen and liver due to deficiency of...; 关键词：GAUCHER disease LYSOSOMAL storage dis-ease Enzyme replacement therapy GENETICS Medical IMAGING Magnetic resonance IMAGING Bone MARROW

婴儿戈谢病(Gaucher's)一例基因型与表型的临床特点及相关性并文献复习: 《中国优生与遗传杂志》2014年第5期143-144,106,共3页曲先锋张琳葛玉红朱雪; 目的通过1例我院确诊的戈谢病(GD)的患儿临床资料,探讨GD的基因型与临床表型的特点,以期提高儿科医生对戈谢病的认识。方法对2012年8月青岛妇女儿童医院确诊的1例戈谢病(GD)患儿进行辅助检查及基因结果的分析,并对文献进行复习。结果此...; 关键词：戈谢病基因型临床表型产前诊断

Splenomegaly, hypersplenism, and hereditary disorders with splenomegaly: 《Open Journal of Genetics》2013年第1期24-43,共20页Neal J. Weinreb Barry E. Rosenbloom; Splenomegaly, sometimes of massive extent, occurs in a large number of hereditary diseases, some relatively prevalent and others, rare to ultra-rare. Because physicians are often unfamiliar with the less common disord...; 关键词：SPLENOMEGALY HEREDITARY Metabolic DISORDERS Splenectomy Lysosomal Storage Diseases GAUCHER Disease SPHEROCYTOSIS Thalassemia

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