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SpringerLink电子期刊(10)
Elsevier电子期刊(15)
在“
Elsevier电子期刊
”中,
命中:
15
条,耗时:小于0.01 秒
在所有数据库中总计命中:
25
条
1.
N-acetylglutamate synthase
deficiency
: Novel mutation associated with neonatal presentation and literature review of molecular and phenotypic spectra
作者:
Eiman H. Al Kaabi
a
;
Ayman W. El-Hattab
b
;
elhattabaw@yahoo.com" class="auth_mail" title="E-mail the corresponding author
关键词:
NAGS
;
Urea cycle disorders
;
Hyperammonemia
;
N-carbamylglutamate
刊名:Molecular Genetics and Metabolism Reports
出版年:2016
2.
A novel UPLC-MS/MS based method to determine the activity of N-acetylglutamate synthase in liver tissue
作者:
Marli Dercksen
a
;
b
;
marli.dercksen@nwu.ac.za
;
Marinus Duran
a
;
Lodewijk IJlst
a
;
Wim Kulik
a
;
Jos P.N. Ruiter
a
;
Arno van Cruchten
a
;
Mendel Tuchman
c
;
Ronald J. A Wanders
a
关键词:
N-acetylglutamate
;
Hyperammonia
;
Mass spectrometry
;
NAGS
-
deficiency
刊名:Molecular Genetics and Metabolism
出版年:2016
3.
Dietary management of urea cycle disorders: European practice
作者:
S. Adam
;
M.F. Almeida
;
M. Assoun
;
J. Baruteau
;
S.M. Bernabei
;
S. Bigot
;
H. Champion
;
A. Daly
;
M. Dassy
;
S. Dawson
;
M. Dixon
;
K. Dokoupil
;
S. Dubois
;
C. Dunlop
;
S. Evans
;
F. Eyskens
;
A. Faria
;
E. Favre
;
C. Ferguson
;
C. Goncalves
;
et al.
关键词:
Metabolic
;
Urea cycle disorders (UCD)
;
Protein restricted diet
;
Essential amino acids (EAA)
;
Branch chain amino acids (BCAA)
刊名:Molecular Genetics and Metabolism
出版年:December, 2013
4.
A novel biochemically salvageable animal model of hyperammonemia devoid of N-acetylglutamate synthase
作者:
Emilee Senkevitch
a
;
b
;
1
;
Juan Cabrera-Luque
a
;
1
;
Hiroki Morizono
a
;
Ljubica Caldovic
a
;
Mendel Tuchman
a
;
mtuchman@cnmc.org
关键词:
CPS1
;
Carbamyl phosphate synthetase 1
;
NAG
;
N-acetyl-l-glutamate
;
NAGS
;
N-acetylglutamate synthase
;
NCG
;
N-carbamyl-l-glutamate
;
Cit
;
Citrulline
;
KOMP
;
Knock-out Mouse Project
;
OTC
;
Ornithine transcarbamylase
刊名:Molecular Genetics and Metabolism
出版年:2012
5.
The Cell Polarity Protein mInsc Regulates Neutrophil Chemotaxis via a Noncanonical G Protein Signaling Pathway
作者:
Sachiko Kamakura
;
Masatoshi Nomura
;
Junya Hayase
;
Yuko Iwakiri
;
Akihiko Nishikimi
;
Ryoichi Takayanagi
;
Yoshinori Fukui
;
Hideki Sumimoto
刊名:Developmental Cell
出版年:2013
6.
Peptide tyrosine tyrosine levels are increased in patients with urea cycle disorders
作者:
Sabrina Mitchell
a
;
sabrina.l.mitchell@vanderbilt.edu
;
Teresa Welch-Burke
b
;
1
;
teresa.welch-burke@Vanderbilt.Edu
;
Logan Dumitrescu
a
;
logan.c.clark@Vanderbilt.Edu
;
Jefferson P. Lomenick
c
;
jefferson.lomenick@Vanderbilt.Edu
;
Deborah G. Murdock
a
;
deborah.murdock@Vanderbilt.Edu
;
Dana C. Crawford
a
;
dana.crawford@chgr.mc.vanderbilt.edu
;
Marshall Summar
a
;
b
;
1
;
2
;
msummar@cnmc.org
关键词:
ASL
;
Argininosuccinate lyase
;
ASS1
;
Argininosuccinate synthase 1
;
BMI
;
Body mass index
;
CPS1
;
Carbamoyl-phosphate synthase 1
;
NAGS
;
N-acetylglutamate synthase
;
OTC
;
Ornithine carbamoyltransferase
;
OTCD
;
Ornithine carbamoyltransferase
deficiency
;
PYY
;
Pept
刊名:Molecular Genetics and Metabolism
出版年:2012
7.
Mechanism of arginine regulation of acetylglutamate synthase, the first enzyme of arginine synthesis
作者:
Enea Sancho-Vaello
;
Marí
;
a L. Ferná
;
ndez-Murga
;
Vicente Rubio
关键词:
N-acetyl-
l
-glutamate synthase
;
Arginine biosynthesis
;
Feed-back inhibition
;
Glutamate binding
;
Urea cycle errors
;
NAGS
deficiency
刊名:FEBS Letters
出版年:2009
8.
Site-directed mutagenesis studies of acetylglutamate synthase delineate the site for the arginine inhibitor
作者:
Enea Sancho-Vaello
;
M. Leonor Ferná
;
ndez-Murga
;
Vicente Rubio
关键词:
N
-acetyl-
l
-glutamate synthase
;
Arginine biosynthesis
;
Feed-back inhibition
;
Glutamate binding
;
Urea cycle errors
;
NAGS
deficiency
刊名:FEBS Letters
出版年:2008
9.
N-acetylglutamate synthase: structure, function and defects
作者:
Ljubica Caldovic
;
Nicholas Ah Mew
;
Dashuang Shi
;
Hiroki Morizono
;
Marc Yudkoff
;
Mendel Tuchman
关键词:
Urea cycle
;
Ureagenesis
;
N-carbamylglutamate
;
Arginine
;
Hyperammonemia
;
Regulation
刊名:Molecular Genetics and Metabolism
出版年:2010
10.
Identification of novel mutations of the human N-acetylglutamate synthase gene and their functional investigation by expression studies
作者:
Schmidt
;
Eva
;
Nuoffer
;
Jean-Marc
;
H??berle
;
Johannes
;
Pauli
;
Silke
;
Guffon
;
Nathalie
;
Vianey-Saban
;
Christine
;
et. al.
关键词:
NAGS
;
Hyperammonemia
;
NAGS
deficiency
刊名:BBA - Molecular Basis of Disease
出版年:2005
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