In-vivo brain H1-MR-Spectroscopy identification and quantification of 2-hydroxyglutarate in L-2-Hydroxyglutaric aciduria

网站地图 | English | 公务邮箱

About the library

Background
History
Leadership
Organization

Opening Hours
Collections
Help Via Email

Electronic Information Resources

In-vivo brain H1-MR-Spectroscopy identification and quantification of 2-hydroxyglutarate in L-2-Hydroxyglutaric aciduria

详细信息查看全文

作者：Elena Anghileri^a ; ^{elena.anghileri@istituto-besta.it" class="auth_mail" title="E-mail the corresponding author} ; Nicola Bertolino^b ; Ettore Salsano^c ; Luigi Antelmi^d ; Patrizia Carpinelli^e ; Barbara Castellotti^f ; Ileana Zucca^b ; Cinzia Gellera^f ; Raffaele Bisogno^g ; ^h ; Claudio Caccia^f ; Valeria Cuccarini^g
关键词：ADC ; Apparent Diffusion Coefficient ; cMRI ; conventional magnetic resonance imaging ; CRBL ; Cramé ; r-Rao lower bounds ; CSF ; cerebro-spinal fluid ; DWI ; Diffusion weighted images ; EDDS ; Expanded Disability Status Scale ; FLAIR ; Fluid-Attenuated Inversion Recovery ; L2HG ; L-2-hydroxyglutarate ; L2HGA ; L-2-Hydroxyglutaric aciduria ; L2HGDH ; L-2-hydroxyglutarate dehydrogenase gene ; IDH ; Isocitrate-Dehydrogenase 1/2 ; MRM ; multiple reaction monitoring mode ; MRS ; Magnetic resonance spectroscopy ; NAA ; N-a
刊名：Brain Research
出版年：2016
出版时间：1 October 2016
年：2016
卷：1648
期：part_PA
页码：506-511
全文大小：1252 K

文摘

•: 2-hydroxyglutarate is detected by brain MRS in L-2-Hydroxyglutaric aciduria (L2HGA).
•: L2HGA patients show high levels of blood 2-hydroxyglutarate.
•: Novel m>L2HGDHm> gene mutations are found in all three patients.

NGLC 2004-2010.National Geological Library of China All Rights Reserved.
Add:29 Xueyuan Rd,Haidian District,Beijing,PRC. Mail Add: 8324 mailbox 100083
For exchange or info please contact us via email.