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

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第一作者： Elena,Anghileri

第一单位： Unit of Molecular Neuro-Oncology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Via Celoria 11, 20133 Milano, Italy. Electronic address: elena.anghileri@istituto-besta.it.

作者： Elena,Anghileri ^[1] ; Nicola,Bertolino ^[2] ; Ettore,Salsano ^[3] ; Luigi,Antelmi ^[4] ; Patrizia,Carpinelli ^[5] ; Barbara,Castellotti ^[6] ; Ileana,Zucca ^[2] ; Cinzia,Gellera ^[6] ; Raffaele,Bisogno ^[7] ; Claudio,Caccia ^[6] ; Valeria,Cuccarini ^[8]

作者单位： Unit of Molecular Neuro-Oncology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Via Celoria 11, 20133 Milano, Italy. Electronic address: elena.anghileri@istituto-besta.it. ^[1] Scientific Department, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy. ^[2] Department of Clinical Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy. ^[3] Health Department, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy. ^[4] Biology Department, Nerviano Medical Sciences S.r.l., Nerviano, Milano, Italy. ^[5] Unit of Genetics of Neurodegenerative and Metabolic Diseases, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy. ^[6] Neuroradiology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy; University of Milan, Via Festa del Perdono 7, Milano, Italy. ^[7] Neuroradiology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy. ^[8]

关键词 2-Hydroxyglutaric Aciduria (L2HGA)2-hydroxyglutarate (2HG)Brain H(1)-MRS L2HGA gene Mass spectrometric methods Point Resolved Sequence (PRESS)