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CNKI会议论文(1)
知网期刊论文(3)
在“
Elsevier电子期刊
”中,
命中:
5
条,耗时:小于0.01 秒
在所有数据库中总计命中:
4
条
1.
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
;
CTLN
2
;
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
2.
Molecular genetics of citrullinemia types I and II
作者:
Hye In Woo
a
;
Hyung-Doo Park
b
;
Yong-Wha Lee
c
;
lywmd@schmc.ac.kr" class="auth_mail
关键词:
CTLN1
;
CTLN
2
;
ASS1
;
SLC25A13
;
Genotype&ndash
;
phenotype
刊名:Clinica Chimica Acta
出版年:20 April, 2014
3.
High prevalence of neonatal presentation in Korean patients with citrullinemia type 1, and their shared mutations
作者:
Beom Hee Lee
a
;
b
;
c
;
Yoo-Mi Kim
a
;
Sun Hee Heo
c
;
Gu-Hwan Kim
b
;
c
;
In-Hee Choi
b
;
c
;
Byong Sop Lee
a
;
Ellen Ai-Rhan Kim
a
;
Ki-Soo Kim
a
;
Won Kyoung Jhang
a
;
Seong Jong Park
a
;
Han-Wook Yoo
a
;
b
;
c
;
hwyoo@amc.seoul.kr
关键词:
CTLN1
;
type 1 citrullinemia
;
ASS1
;
argininosuccinate synthetase1
;
MRI
;
magnetic resonance imaging
;
CVVH
;
continuous venovenous hemofiltration
;
PD
;
peritoneal dialysis
;
ADHD
;
attention-deficit hyperactivity disorder
刊名:Molecular Genetics and Metabolism
出版年:2013
4.
Transient fulminant liver failure as an initial presentation in citrullinemia type I
作者:
Hannaneh Faghfoury
a
;
1
;
Julian Baruteau
b
;
Helene Ogier de Baulny
c
;
Johannes Hä
;
berle
d
;
Andreas Schulze
a
;
andreas.schulze@sickkids.ca
关键词:
Citrullinemia
;
CTLN1
;
Urea cycle defect
;
Liver failure
;
Hepatitis
;
Liver transplantation
刊名:Molecular Genetics and Metabolism
出版年:2011
5.
Citrullinemia Type I, Classical Variant. Identification of ASSp.G390R (c.1168G > A) mutation in families of a limited geographic area of Argentina: A possible population cluster
作者:
Laura E. Laró
;
vere
;
Celia J. Angaroni
;
S
;
ra L. Antonozzi
;
Miriam B. Bezard
;
Mariko Shimohama
;
Raquel Dodelson de Kremer
关键词:
Classical citrullinemia
;
CTLN1
;
Argininosuccinate synthetase
;
Urea cycle disorder
;
Cluster
刊名:Clinical Biochemistry
出版年:2009
1
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文摘(3)
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2000年及以前(2)
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