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内部出版物
在“
Elsevier电子期刊
”中,
命中:
8
条,耗时:0.0189894 秒
1.
Bovine
citrullinaemia
in Turkish Grey cattle
作者:
Askin Galic
;
galic@akdeniz.edu.tr" class="auth_mail" title="E-mail the corresponding author
;
Taki Karsli
;
Murat Soner Balcioglu
刊名:Journal of Biotechnology
出版年:2016
2.
A novel mutation of the SLC25A13 gene in a Chinese patient with citrin deficiency detected by target next-generation sequencing
作者:
Gang Liu
;
Xiaoming Wei
;
Rui Chen
;
Hanlin Zhou
;
Xiaoyan Li
;
Yan Sun
;
Shuqi Xie
;
Qian Zhu
;
Ning Qu
;
Guanghui Yang
;
Yuxing Chu
;
Haitao Wu
;
Zhangzhang Lan
;
Jinming Wang
;
Yi Yang
;
Xin Yi
关键词:A ;
adenosine
;
AA
;
amino acid(s)
;
ALP
;
alkaline phosphatase
;
ALT
;
alanine transaminase
;
ASS
;
argininosuccinate synthetase 1
;
ASS1
;
gene encoding argininosuccinate synthase 1
;
AST
;
aspartate aminotransferase
;
bp
;
base pair(s)
;
BWA
;
Burrows Wheeler Aligner
;
C
;
cytidine
;
CTLN
;
citrullinaemia
;
CTLN1
;
type I
citrullinaemia
;
CTLN2
;
adult-onset type II
citrullinaemia
;
E
;
glutamic acid
;
FAH
;
gene encoding fumarylacetoacetate hydrolase
;
FTTDCD
;
failure to thrive and dyslipidaemia caused by citrin deficien
刊名:Gene
出版年:10 January, 2014
3.
Towards newborn screening for ornithine transcarbamylase deficiency: Fast non-chromatographic orotic acid quantification from dried blood spots by tandem mass spectrometry
作者:
Nils Janzen
a
;
d
;
e
;
Janzen.Nils@mh-hannover.de" class="auth_mail
;
n.janzen@metabscreen.de" class="auth_mail
;
Michael Terhardt
a
;
Stefanie Sander
a
;
Mü
;
beccel Demirkol
b
;
Gü
;
lden Gö
;
kç
;
ay
b
;
Michael Peter
a
;
Thomas Lü
;
cke
d
;
Johannes Sander
a
;
Anibh M. Das
c
关键词:
Newborn screening of urea cycle defects
;
OTC deficiency in newborns
;
Orotic acid
刊名:Clinica Chimica Acta
出版年:20 March, 2014
4.
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
5.
Serial diffusion-weighted magnetic resonance imaging in adult-onset
citrullinaemia
作者:
Au
;
Wing Lok
;
Lim
;
Tchoyoson C.C.
;
Seow
;
Dennis C.C.
;
Koh
;
Pei Lin
;
Loh
;
Ngai Kun
;
Lim
;
Maria S.F.
;
et. al.
关键词:
Citrullinaemia
;
Recurrent coma
;
Diffusion-weighted MR
刊名:Journal of the Neurological Sciences
出版年:2003
6.
The unique characteristics of spasticity in a patient with Type II (adult onset)
citrullinaemia
作者:
H. Morita
;
Y. Takei
;
T. Hashimoto
;
S. Ikeda
关键词:
Sleep
;
Cyclic alternating pattern (CAP)
;
CAP sequences
;
Arousals
;
Slow EEG oscillations
刊名:Clinical Neurophysiology
出版年:2007
7.
0632 Magnetic resonance imaging and spectroscopy in Adult-Onset
citrullinaemia
刊名:Journal of the Neurological Sciences
出版年:2005
8.
Population survey of citrullinemia on German Holsteins
作者:
Grupe
;
S.
;
Dietl
;
G.
;
Schwerin
;
M.
关键词:
Dairy cattle
;
Citrullinaemia
;
Genetic disorder
;
Population survey
刊名:Livestock Production Science
出版年:1996
1
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