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SpringerLink电子期刊(34)
Elsevier电子期刊(27)
ACS电子期刊(1)
在“
Elsevier电子期刊
”中,
命中:
27
条,耗时:小于0.01 秒
在所有数据库中总计命中:
62
条
1.
Pigmentation-Independent Susceptibility Loci for Actinic Keratosis Highlighted by Compound Heterozygosity Analysis
作者:
Kaiyin Zhong
1
;
Joris A.C. Verkouteren
2
;
Leonie C. Jacobs
2
;
Andre G. Uitterlinden
3
;
4
;
Albert Hofman
4
;
Fan Liu
1
;
5
;
Tamar Nijsten
2
;
6
;
t.nijsten@erasmusmc.nl
;
Manfred Kayser
1
;
6
;
m.kayser@erasmusmc.nl
关键词:
AK
;
actinic keratosis
;
CH
;
compound heterozygote
;
GCDH
;
generalized collapsed double heterozygosity
;
GST
;
glutathione-S-transferases
;
GWAS
;
Genome-Wide Association Study
;
RS
;
Rotterdam Study
;
SCC
;
squamous cell carcinoma
;
SNP
;
single nucleotide polymorphism
刊名:Journal of Investigative Dermatology
出版年:2017
2.
Immunolocalization of glutaryl-CoA dehydrogenase (
GCDH
) in adult and embryonic rat brain and peripheral tissues
刊名:Neuroscience
出版年:2017
3.
Clinical and molecular investigation in Chinese patients with glutaric aciduria type I
作者:
Yanghui Zhang
a
;
Haoxian Li
a
;
b
;
Ruiyu Ma
a
;
Libin Mei
a
;
Xianda Wei
a
;
Desheng Liang
a
;
b
;
liangdesheng@sklmg.edu.cn" class="auth_mail" title="E-mail the corresponding author
;
Lingqian Wu
a
;
b
;
wulingqian@sklmg.edu.cn" class="auth_mail" title="E-mail the corresponding author
关键词:
Glutaric aciduria type I
;
GCDH
;
Splice site mutation
;
Newborn screening
刊名:Clinica Chimica Acta
出版年:2016
4.
The M405V allele of the glutaryl-CoA dehydrogenase gene is an important marker for glutaric aciduria type I (GA-I) low excretors
作者:
Lori-Anne P. Schillaci
a
;
1
;
Carol L. Greene
b
;
Erin Strovel
b
;
Jessica Rispoli-Joines
b
;
Elaine Spector
c
;
Michael Woontner
c
;
Gunter Scharer
c
;
Gregory M. Enns
d
;
Renata Gallagher
e
;
Arthur B. Zinn
a
;
g
;
Shawn E. McCandless
a
;
f
;
g
;
Charles L. Hoppel
h
;
i
;
Stephen I. Goodman
c
;
Jirair K. Bedoyan
a
;
f
;
g
;
1
;
jirair.bedoyan@uhhospitals.org" class="auth_mail" title="E-mail the corresponding author
关键词:
GCDH
;
Glutaryl-CoA dehydrogenase
;
Glutaric aciduria
;
Low excretor
;
Newborn screen
;
Urinary acylcarnitines
刊名:Molecular Genetics and Metabolism
出版年:2016
5.
P74 - 2429: A review of a series of patients with type 1 glutaric aciduria at Inkosi Albert Luthuli Central Hospital, Durban, South Africa
作者:
R. Govender
;
A. Mitha
;
L. Mubaiwa
刊名:European Journal of Paediatric Neurology
出版年:2015
6.
Disruption of brain redox homeostasis in glutaryl-CoA dehydrogenase deficient mice treated with high dietary lysine supplementation
作者:
Bianca Seminotti
a
;
Alexandre Umpierrez Amaral
a
;
Mateus Struecker da Rosa
a
;
Carolina Gonç
;
alves Fernandes
a
;
Guilhian Leipnitz
a
;
Silvia Olivera-Bravo
b
;
Luis Barbeito
b
;
Cé
;
sar Augusto J. Ribeiro
a
;
Diogo Onofre Gomes de Souza
a
;
Michael Woontner
c
;
Stephen I. Goodman
c
;
David M. Koeller
d
;
Moacir Wajner
a
;
e
;
mwajner@ufrgs.br
关键词:
CAT
;
catalase
;
DCF-DA
;
2-7-dihydrodichlorofluorescein diacetate
;
DCFH
;
2-7-dihydrodichlorofluorescein
;
DTNB
;
5-5-dithio-bis (2-nitrobenzoic acid)
;
EDTA
;
ethylenediamine tetraacetic acid
;
GA I
;
glutaric aciduria type I
;
GA
;
glutaric acid
;
Gcdh
&minus
;
/&minu
刊名:Molecular Genetics and Metabolism
出版年:2013
7.
Acute renal proximal tubule alterations during induced metabolic crises in a mouse model of glutaric aciduria type 1
作者:
Bastian Thies
;
Catherine Meyer-Schwesinger
;
Jessica Lamp
;
Michaela Schweizer
;
David M. Koeller
;
Kurt Ullrich
;
Thomas Braulke
;
Chris M¨¹hlhausen
关键词:
GA
;
glutaric acid
;
GA1
;
glutaric aciduria type 1
;
GABA
;
¦Ã-aminobutyric acid
;
GCDH
;
glutaryl-CoA dehydrogenase
;
HPD
;
high protein diet
;
HNF
;
hepatocyte nuclear factor
;
MUP1
;
major urinary protein 1
;
NaC
;
sodium-dependent dicarboxylate cotransporter
;
ND
;
n
刊名:Biochimica et Biophysica Acta (BBA)/Molecular Basis of Disease
出版年:2013
8.
Marked reduction of Na
+
, K
+
-ATPase and creatine kinase activities induced by acute lysine administration in glutaryl-CoA dehydrogenase deficient mice
作者:
Alex
;
re Umpierrez Amaral
;
Cristiane Cecatto
;
Bianca Seminotti
;
?ngela Zanatta
;
Carolina Gon?alves Fern
;
es
;
Estela Natacha Br
;
t Busanello
;
Luisa Macedo Braga
;
C¨¦sar Augusto Jo?o Ribeiro
;
Diogo Onofre Gomes de Souza
;
Michael Woontner
;
David M. Koeller
;
Stephen Goodman
;
Moacir Wajner
关键词:
CK
;
creatine kinase
;
DCIP
;
dichloroindophenol
;
EDTA
;
ethylenediaminetetracetic acid
;
GA
;
glutaric acid
;
GA I
;
glutaric acidemia type I
;
GCDH
;
glutaryl-CoA dehydrogenase
;
Gcdh
&minus
;
/&minus
;
glutaryl-CoA dehydrogenase deficient mice
;
3HGA
;
3-hydroxyglutar
刊名:Molecular Genetics and Metabolism
出版年:2012
9.
Microarray genomic profile of mitochondrial and oxidant response in manganese chloride treated PC12 cells
作者:
Equar Taka
;
Elizabeth Mazzio
;
Karam F.A. Soliman
;
R. Renee Reams
;
renee.reams@famu.edu
;
reams@famu.edu
;
reneereams.famu@gmail.com
关键词:
Manganese
;
Dopamine
;
Heme oxygenase
;
Mitochondria
;
cDNA microarray whole genome
;
GCDH
刊名:Neurotoxicology
出版年:2012
10.
Neurodevelopmental and cognitive behavior of glutaryl-CoA dehydrogenase deficient knockout mice
作者:
Estela Natacha Brandt Busanello
a
;
Letí
;
cia Pettenuzzo
a
;
Paulo Henrique Botton
a
;
Pablo Pandolfo
b
;
Diogo Onofre Gomes de Souza
a
;
Michael Woontner
c
;
Stephen Goodman
c
;
David Koeller
d
;
e
;
Moacir Wajner
a
;
f
;
mwajner@ufrgs.br
关键词:
Glutaric acidemia type I
;
Mice behavior
;
Cognitive behavior
;
Climbing behavior
;
Neurodevelopment
;
Knockout mice model
刊名:Life Sciences
出版年:2013
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