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Elsevier电子期刊(3)
在“
Elsevier电子期刊
”中,
命中:
3
条,耗时:小于0.01 秒
在所有数据库中总计命中:
3
条
1.
In-vivo brain H1-MR-Spectroscopy identification and quantification of 2-hydroxyglutarate in L-2-Hydroxyglutaric aciduria
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
2.
White matter abnormalities in an adult patient with l-2-hydroxyglutaric aciduria
作者:
Toshiyuki Yamamoto
a
;
yamamoto.toshiyuki@twmu.ac.jp" class="auth_mail" title="E-mail the corresponding author
;
Seiichiro Yoshioka
b
;
Yoshinori Tsurusaki
c
;
Shimada Shino
a
;
d
;
Keiko Shimojima
a
;
Yosuke Shigematsu
e
;
Yoshihiro Takeuchi
b
;
Naomichi Matsumoto
c
关键词:
l-2-Hydroxyglutaric aciduria (l-2-HGA)
;
L2HGDH
;
Subcortical white matter abnormalities
;
Genotype-first approach
;
Clinical exome sequencing
刊名:Brain and Development
出版年:2016
3.
l-2-Hydroxyglutaric aciduria presenting with severe autistic features
作者:
D.I. Zafeiriou
;
A. Ververi
;
G.S. Salomons
;
E. Vargiami
;
D. Haas
;
V. Papadopoulou
;
E. Kontopoulos
;
C. Jakobs
关键词:
l
-2-Hydroxyglutaric aciduria
;
Autism
;
Macrocephaly
;
Leukodystrophy
;
L2HGDH
刊名:Brain and Development
出版年:2008
1
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