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SpringerLink电子期刊(22)
Elsevier电子期刊(60)
在“
Elsevier电子期刊
”中,
命中:
60
条,耗时:0.0809609 秒
在所有数据库中总计命中:
82
条
1.
Efficacy of bezafibrate on fibroblasts of
glutaric
acidemia
type
II patients evaluated using an in vitro probe acylcarnitine assay
作者:
Kenji Yamada
a
;
k-yamada@med.shimane-u.ac.jp
;
Hironori Kobayashi
a
;
Ryosuke Bo
a
;
b
;
Jamiyan Purevsuren
a
;
Yuichi Mushimoto
a
;
Tomoo Takahashi
a
;
Yuki Hasegawa
a
;
Takeshi Taketani
a
;
Seiji Fukuda
a
;
Seiji Yamaguchi
a
关键词:
Bezafibrate
;
Glutaric
acidemia
type
II
;
Multiple acyl-CoA dehydrogenase deficiency
;
In vitro probe assay
;
Fatty acid oxidation disorders
刊名:Brain and Development
出版年:2017
2.
Clinical, biochemical and molecular investigation of adult-onset
glutaric
acidemia
type
II: Characteristics in comparison with pediatric cases
作者:
Kenji Yamada
a
;
k-yamada@med.shimane-u.ac.jp" class="auth_mail" title="E-mail the corresponding author
;
Hironori Kobayashi
a
;
Ryosuke Bo
a
;
Tomoo Takahashi
a
;
Jamiyan Purevsuren
a
;
Yuki Hasegawa
a
;
Takeshi Taketani
a
;
Seiji Fukuda
a
;
Takuya Ohkubo
b
;
Takanori Yokota
b
;
Mutsufusa Watanabe
c
;
Taiji Tsunemi
d
;
Hidehiro Mizusawa
e
;
Hiroshi Takuma
f
;
Ayako Shioya
f
;
Akiko Ishii
f
;
Akira Tamaoka
f
;
Yosuke Shigematsu
g
;
Hideo Sugie
h
;
Seiji Yamaguchi
a
关键词:
Multiple acyl-CoA dehydrogenase deficiency (
glutaric
acidemia
type
II)
;
Adult onset
;
Myopathy
;
Serum acylcarnitine
;
Immunoblotting
;
In vitro probe acylcarnitine assay
刊名:Brain and Development
出版年:2016
3.
The effect of WIN 55,212-2 suggests a cannabinoid-sensitive component in the early toxicity induced by organic acids accumulating in
glutaric
acidemia
type
I and in related disorders of propionate metabolism in rat brain synaptosomes
作者:
A.L. Colí
;
n-Gonzá
;
lez
a
;
&dagger
;
;
A.L. Paz-Loyola
a
;
&dagger
;
;
I.N. Serratos
a
;
b
;
B. Seminotti
c
;
C.A.J. Ribeiro
c
;
G. Leipnitz
c
;
D.O. Souza
c
;
M. Wajner
c
;
d
;
mwajner@ufrgs.br" class="auth_mail" title="E-mail the corresponding author
;
A. Santamarí
;
a
a
;
absada@yahoo.com" class="auth_mail" title="E-mail the corresponding author
关键词:
3-OHGA
;
3-hydroxy
glutaric
acid
;
ANOVA
;
analysis of variance
;
CB1
;
type
-1 cannabinoid receptor
;
CB2
;
type
-2 cannabinoid receptor
;
CBs
;
cannabinoids
;
DCF
;
2&prime
;
7&prime
;
-dichlorofluorescein
;
DCFH-DA
;
2&prime
;
7&prime
;
-dichlorofluorescein diacetate
;
ECS
;
endocannabinoid system
;
GA I
;
glutaric
academia
type
I
;
GA
;
glutaric
acid
;
GSH
;
reduced glutathione
;
HEPES
;
4-(2-hydroxyethyl)piperazine-1-ethanesulfonic acid
;
MM
Acidemia
;
methylmalonic
acidemia
;
MD
;
metabolic disorders
;
MDA
;
malondialdehyde
;
MK
刊名:Neuroscience
出版年:2015
4.
Toxic synergism between quinolinic acid and organic acids accumulating in
glutaric
acidemia
type
I and in disorders of propionate metabolism in rat brain synaptosomes: Relevance for metabolic
acidemia
s
作者:
A.L. Colí
;
n-Gonzá
;
lez
a
;
&dagger
;
;
A.L. Paz-Loyola
a
;
&dagger
;
;
I. Serratos
b
;
B. Seminotti
c
;
&dagger
;
;
C.A.J. Ribeiro
c
;
&dagger
;
;
G. Leipnitz
c
;
D.O. Souza
c
;
M. Wajner
c
;
d
;
mwajner@ufrgs.br" class="auth_mail" title="E-mail the corresponding author
;
A. Santamarí
;
a
a
;
absada@yahoo.com" class="auth_mail" title="E-mail the corresponding author
关键词:
GA
;
glutaric
acid
;
GA I
;
glutaric
acidemia
type
I
;
GDD
;
glutaryl-CoA dehydrogenase
;
HEPES
;
4-(2-hydroxyethyl)-1-piperazineethanesulfonic acid
;
KA
;
kynurenic acid
;
KP
;
kynurenine pathway
;
l-NAME
;
l-nitro-l-arginine methyl ester
;
MDA
;
Malondialdehyde
;
MMA
;
methylmalonic acid
;
MM
Acidemia
;
methylmalonic
acidemia
;
MTT
;
3-(4
;
5-dimethylthiazol-2-yl)-2
;
5-diphenyltetrazolium bromide
;
NMDA
;
N-methyl-d-aspartate
;
NMDAr
;
NMDA receptors
;
NOS
;
nitric oxide synthase
;
OA
;
organic
acidemia
s
;
PA
;
propionic acid
刊名:Neuroscience
出版年:2015
5.
A role of astrocytes in mediating postnatal neurodegeneration in
Glutaric
acidemia
-
type
1
作者:
Silvia Olivera-Bravo
a
;
Luis Barbeito
b
;
barbeito@pasteur.edu.uy" class="auth_mail" title="E-mail the corresponding author
关键词:
Astrocyte dysfunction
;
Glutaric
acidemia
I
;
Neuronal death
;
Defective myelination
刊名:FEBS Letters
出版年:2015
6.
Demographic and clinical features of
glutaric
acidemia
type
1; a high frequency among isolates in Upper Egypt
作者:
Osama K. Zaki
a
;
ozaki@medical-genetics.net" class="auth_mail
;
okzaki@gmail.com" class="auth_mail
;
Heba Salah Elabd
b
;
Shaimaa Gad Ragheb
b
;
Dina A. Ghoraba
a
;
Ahmed Essam Elghawaby
a
关键词:
Glutaric
acidemia
type
1
;
Inborn errors of metabolism
;
Egypt
;
Genetics
;
Consanguinity
;
Newborn screening
刊名:Egyptian Journal of Medical Human Genetics
出版年:April, 2014
7.
Genetic profiling of Indian patients with
glutaric
acidemia
type
I
作者:
S. Muntaj
a
;
;
T.P. Kruthika-Vinod
a
;
A.B. Vedamurthy
b
刊名:Journal of the Neurological Sciences
出版年:2015
8.
Glutaric
acidemia
Type
1: Outcomes before and after expanded newborn screening
作者:
Krista Viau
;
Sharon L. Ernst
;
Rena J. Vanzo
;
Lorenzo D. Botto
;
Marzia Pasquali
;
Nicola Longo
关键词:
Glutaric
acidemia
type
1
;
Newborn screening
;
GCDH genetic/molecular analysis
刊名:Molecular Genetics and Metabolism
出版年:2012
9.
Reduction of Na
+
, K
+
-ATPase activity and expression in cerebral cortex of glutaryl-CoA dehydrogenase deficient mice: A possible mechanism for brain injury in
glutaric
aciduria
type
I
作者:
Alexandre Umpierrez Amaral
a
;
Bianca Seminotti
a
;
Cristiane Cecatto
a
;
Carolina Gonç
;
alves Fernandes
a
;
Estela Natacha Brandt Busanello
a
;
Â
;
ngela Zanatta
a
;
Luiza Wilges Kist
b
;
Maurí
;
cio Reis Bogo
b
;
Diogo Onofre Gomes de Souza
a
;
Michael Woontner
c
;
Stephen Goodman
c
;
David M. Koeller
d
;
Moacir Wajner
a
;
e
;
mwajner@ufrgs.br
关键词:
CK
;
creatine kinase
;
DCIP
;
dichloroindophenol
;
DNP
;
dinitrophenol
;
EDTA
;
ethylenediaminetetracetic acid
;
EGTA
;
ethylene glycol-bis(2-aminoethylether)-N
N ;
N&prime
;
N&prime
;
-tetraacetic acid
;
GA
;
glutaric
acid
;
GA I
;
glutaric
acidemia
type
I
;
GCDH
;
glutaryl
刊名:Molecular Genetics and Metabolism
出版年:2012
10.
Screening of diseases associated with abnormal metabolites for evaluation of HPLC in organic aciduria profiling
作者:
Dina A. Ghoraba
;
Magdy M. Mohamed
;
Osama K. Zaki
关键词:
GC/MS
;
gas chromatography/mass spectrometry
;
LC&ndash
;
MS/MS
;
liquid chromatography mass spectrometry/mass spectrometry
;
HPLC
;
high performance liquid chromatography
;
MSUD
;
maple syrup urine disease
;
PA
;
propionic
acidemia
;
IVA
;
isovaleric
acidemia
;
CoA
;
coenzyme A
;
GA-1
;
glutaric
acidemia
type
I
;
BKT
;
尾-ketothiolase deficiency
;
MMA
;
methylmalonic aciduria
;
PGA
;
pyroglutamic aciduria
;
UCD
;
urea cycle defect
;
NKHG
;
non-ketotic hyperglycinemia
;
CD
;
creatine deficiency
;
Q.MTD
;
query mitochondrial d
刊名:Egyptian Journal of Medical Human Genetics
出版年:January, 2014
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