In-vivo brain H1-MR-Spectroscopy identification and quantification of 2-hydroxyglutarate in L-2-Hydroxyglutaric aciduria
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- 作者：Elena Anghileria ; elena.anghileri@istituto-besta.it" class="auth_mail" title="E-mail the corresponding author ; Nicola Bertolinob ; Ettore Salsanoc ; Luigi Antelmid ; Patrizia Carpinellie ; Barbara Castellottif ; Ileana Zuccab ; Cinzia Gelleraf ; Raffaele Bisognog ; h ; Claudio Cacciaf ; Valeria Cuccarinig
- 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
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2-hydroxyglutarate is detected by brain MRS in L-2-Hydroxyglutaric aciduria (L2HGA).
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L2HGA patients show high levels of blood 2-hydroxyglutarate.
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Novel L2HGDH gene mutations are found in all three patients.