设为首页
收藏本站
网站地图
|
English
|
公务邮箱
About the library
Background
History
Leadership
Organization
Readers' Guide
Opening Hours
Collections
Help Via Email
Publications
Electronic Information Resources
常用资源
电子图书
期刊论文
学位会议
外文资源
特色专题
内部出版物
Wiley电子期刊(1)
SpringerLink电子期刊(90)
Elsevier电子期刊(100)
在“
Elsevier电子期刊
”中,
命中:
100
条,耗时:0.0259899 秒
在所有数据库中总计命中:
191
条
1.
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
2.
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
3.
Spectrum of mutations in Glutaryl-CoA dehydrogenase gene in
glutaric
aciduria
type I - Study from South India
作者:
A. Radha Rama Devi
a
;
c
;
radharamadevi@gmail.com" class="auth_mail" title="E-mail the corresponding author
;
Vakkalagadda A. Ramesh
d
;
e
;
H.A. Nagarajaram
d
;
S.P.S. Satish
c
;
U. Jayanthi
c
;
Lokesh Lingappa
b
关键词:
Glutaric
aciduria
;
Glutaryl-CoA dehydrogenase
;
Metabolic disease
;
Novel mutation
;
Movement disorders
刊名:Brain and Development
出版年:2016
4.
The role of MRI and MRS in the diagnosis of non hydrocephalic macrocrania in infancy and early childhood
作者:
Dalia M. Moussa
a
;
;
Abdel Aziz El Nekeidy
a
;
Ahmed M. Abougabal
a
;
Tarek I. Omar
b
;
Tarek R. Saleh
a
关键词:
MRI
;
MRS
;
Non hydrocephalic macrocrania
;
Dysmyelinating
;
Glutaric
aciduria
刊名:The Egyptian Journal of Radiology and Nuclear Medicine
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.
Triple therapy with pyridoxine, arginine supplementation and dietary lysine restriction in pyridoxine-dependent epilepsy: Neurodevelopmental outcome
作者:
Curtis R. Coughlin II
a
;
Clara D.M. van Karnebeek
b
;
Walla Al-Hertani
c
;
1
;
Andrew Y. Shuen
c
;
2
;
Sravan Jaggumantri
b
;
Rhona M. Jack
d
;
Sommer Gaughan
a
;
Casey Burns
a
;
David M. Mirsky
e
;
Renata C. Gallagher
a
;
3
;
Johan L.K. Van Hove
a
;
Johan.Vanhove@childrenscolorado.org" class="auth_mail" title="E-mail the corresponding author
关键词:
5HIAA
;
5-hydroxyindolacetic acid
;
伪-AASA
;
伪-aminoadipic semialdehyde
;
ABAS II
;
Adaptive Behavioral Assessment System-II
;
AIMS
;
Alberta Infant Motor Score
;
CSF
;
cerebral spinal fluid
;
DOL
;
days of life
;
EEG
;
electroencephalography
;
FMOC
;
fluorenylmethoxycarbonyl
;
GA I
;
glutaric
aciduria
type I
;
HVA
;
homovanilic acid
;
P6C
;
螖1-piperideine-6-carboxylate
;
PDE
;
pyridoxine dependent epilepsy
;
PLP
;
pyridoxal 5&prime
;
-phosphate
刊名:Molecular Genetics and Metabolism
出版年:2015
7.
Experimental evidence that overexpression of NR2B glutamate receptor subunit is associated with brain vacuolation in adult glutaryl-CoA dehydrogenase deficient mice: A potential role for glutamatergic-induced excitotoxicity in GA I neuropathology
作者:
Marí
;
lia Danyelle Nunes Rodrigues
a
;
Bianca Seminotti
a
;
Alexandre Umpierrez Amaral
a
;
Guilhian Leipnitz
a
;
Stephen Irwin Goodman
b
;
Michael Woontner
b
;
Diogo Onofre Gomes de Souza
a
;
Moacir Wajner
a
;
c
;
mwajner@ufrgs.br" class="auth_mail" title="E-mail the corresponding author
关键词:
Glutaric
aciduria
type I
;
Glutamate receptors
;
Glutamate transporter
;
Excitotoxicity
刊名:Journal of the Neurological Sciences
出版年:2015
8.
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
9.
Clinical and genetic features of patients with
glutaric
aciduria
type I (GA1)
作者:
M. Troncoso
;
P. Santander
;
I. Ruiz
;
C. Yá
;
ñ
;
ez
;
F. Faure
;
R. Dí
;
az
;
L. Troncoso
;
A. Barrios
;
J. Tello
刊名:Journal of the Neurological Sciences
出版年:2015
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
1
2
3
4
5
6
7
8
9
按检索点细分(100)
题名(48)
关键词(53)
文摘(74)
按出版年细分(100)
2027年及以后(4)
2016年(4)
2015年(4)
2013年(5)
2012年(7)
2011年(7)
2010年(10)
2009年(4)
2008年(7)
2007年(4)
2006年(8)
2005年(8)
2004年(4)
2003年(3)
2002年(4)
2001年(5)
2000年(1)
2000年及以前(11)
NGLC 2004-2010.National Geological Library of China All Rights Reserved.
Add:29 Xueyuan Rd,Haidian District,Beijing,PRC. Mail Add: 8324 mailbox 100083
For exchange or info please contact us via
email
.