Isovaleric acidemia and Niemann Pick disease type C coexistence and new mutation for Niemann Pick disease type C

Tumer Leyla; Olgac Asburce; Biberoglu Gursel; Sari Sinan; Dalgic Buket; Hasanoglu Alev

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Isovaleric acidemia and Niemann Pick disease type C coexistence and new mutation for Niemann Pick disease type C

机译：异戊酸血症和C型Niemann Pick疾病共存和C型Niemann Pick疾病的新突变

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《Molecular genetics and metabolism》 |2015年第2期|共2页
作者
Tumer Leyla; Olgac Asburce; Biberoglu Gursel; Sari Sinan; Dalgic Buket; Hasanoglu Alev;
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正文语种 eng
中图分类内分泌腺疾病及代谢病;
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1. Isovaleric acidemia and Niemann Pick disease type C coexistence and new mutation for Niemann Pick disease type C [J] . Tumer Leyla, Olgac Asburce, Biberoglu Gursel, Molecular genetics and metabolism . 2015,第2期

机译：异戊酸血症和C型Niemann Pick疾病共存和C型Niemann Pick疾病的新突变
2. A novel mouse model of Niemann-Pick type C disease carrying a D1005G-Npc1 mutation comparable to commonly observed human mutations [J] . Human Molecular Genetics . 2012,第4期

机译：携带D1005G-Npc1突变的Niemann-Pick C型疾病的新型小鼠模型与常见的人类突变相当
3. A novel mouse model of Niemann–Pick type C disease carrying a D1005G-Npc1 mutation comparable to commonly observed human mutations [J] . Robert A. Maue12 Robert W. Burgess5 Bing Wang5 Christine M. Wooley5 Kevin L. Seburn5 Marie T. Vanier6 Maximillian A. Rogers2 Catherine C. Chang2 Ta-Yuan Chang2 Brent T. Harris3 David J. Graber3 Carlos A.A. Penatti1 Donna M. Porter1 Benjamin S. Szwergold4 Leslie P. Henderson12 John W. Totenhagen7 Theodore P. Trouard7 Ivan A. Borbon8 and Robert P. Erickson89* Human Molecular Genetics . 2012,第4期

机译：一种新型的尼曼-匹克C型疾病小鼠模型，其D1005G-Npc1突变与通常观察到的人类突变相当
4. A Quantitative Proteomics Study of Cerebrospinal Fluid from Individual Niemann-Pick Disease, Type C1 Patients [C] . Stephanie M. Cologna, Brian C. Searle, Paul S. Blank, ASMS Conference on Mass Spectrometry and Allied Topics . 2015

机译：脑脊液来自个体铌液患病的定量蛋白质组学研究，C1型患者
5. c-Abl Kinase in Niemann Pick Type A Disease: Its Implication in the Pathogenic Mechanisms Leading to Autophagic Flux Alterations and Neurodegeneration =c-Abl quinasa en la enfermedad de Niemann Pick tipo A: su implicación en los mecanismos patogénicos que [D] . Marín Marín, Tamara Alejandra. 2020

机译：Niemann选择类型的C-Abl激酶是一种设计：其在疾病疾病的致病机制中的含义，导致自噬磁通态改变和Niemann疾病中的C-Abl Kinasa挑选A型：其参与致病机制
6. Rare disease: R542X mutation in SMPD1 gene: genetically novel mutation with phenotypic features intermediate between type A and type B Niemann-Pick disease [O] . Aradhana Aneja, Aditi Sharma, Ashwin Dalal, 2012

机译：罕见疾病：SMPD1基因中的R542X突变：具有A型和B型Niemann-Pick病之间的表型特征的遗传新突变
7. R542X mutation in SMPD1 gene: genetically novel mutation with phenotypic features intermediate between type A and type B Niemann-Pick disease [O] . A. Aneja, A. Sharma, A. Dalal, 2012

机译：SMPD1基因中的R542x突变：基因新突变与表型特征中间体A型和B型Niemann-Pick病

Isovaleric acidemia and Niemann Pick disease type C coexistence and new mutation for Niemann Pick disease type C

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