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内部出版物
CNKI学位论文(236)
知网期刊论文(72)
在“
Elsevier电子期刊
”中,
命中:
58
条,耗时:0.0349559 秒
在所有数据库中总计命中:
308
条
1.
A simple dried blood spot-method for in vivo measurement of
urea
genesis by gas chromatography-mass spectrometry using stable isotopes
作者:
Gabriella Allegri
a
;
Sereina Deplazes
a
;
Hiu Man Grisch-Chan
a
;
Dé
;
borah Mathis
b
;
Ralph Fingerhut
a
;
c
;
Johannes Hä
;
berle
a
;
d
;
Beat Thö
;
ny
a
;
d
;
beat.thony@kispi.uzh.ch
关键词:
OTC
;
ornithine transcarbamylase
;
GC&ndash
;
MS
;
gas chromatography coupled to mass spectrometry
;
DBS
;
dried blood spots
;
UCD
;
urea
cycle
defects
;
IS
;
internal standard
;
adeno-associated virus 2/serotype 8
;
AAV2/8
刊名:Clinica Chimica Acta
出版年:2017
2.
Amenable Treatable Severe Pediatric Epilepsies
作者:
Phillip L. Pearl
;
MD
*
;
Phillip.Pearl@childrens.harvard.edu" class="auth_mail" title="E-mail the corresponding author
刊名:Seminars in Pediatric Neurology
出版年:2016
3.
Characterization and mRNA expression analysis of a novel ARG1 splicing mutation causing hyperargininemia
作者:
Vanessa Villegas-Ruiz
a
;
Felix J. Campos-Garcia
b
;
Silvina Contreras-Capetillo
c
;
Claudia M. Moreno-Graciano
b
;
Felipe A. Maldonado-Solis
b
;
Mario A. Maldonado-Solis
b
;
Juan C. Zenteno
a
;
d
;
jczenteno@institutodeoftalmologia.org" class="auth_mail" title="E-mail the corresponding author
关键词:
Hyperargininemia
;
ARG1
;
Splicing mutation
;
Urea
cycle
disorders
刊名:Clinical Biochemistry
出版年:2015
4.
P97 - 3032: Epidemiological study of neurometabolic diseases diagnosed at Cairo University Children Hospital: A two years outcome
作者:
I.G. Mahmoud
;
M.A. Moneem
;
D.A. Mehany
刊名:European Journal of Paediatric Neurology
出版年:2015
5.
Histopathological findings in livers of patients with
urea
cycle
disorders
作者:
Joy Yaplito-Lee
a
;
joy.yaplito-lee@vcgs.org.au
;
Chung-Wo Chow
b
;
c
;
Avihu Boneh
a
;
c
关键词:
Histopathology
;
Liver
;
Urea
cycle
disorders
刊名:Molecular Genetics and Metabolism
出版年:2013
6.
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
7.
Mitochondrial Carbonic Anhydrase VA Deficiency Resulting from CA5A Alterations Presents with Hyperammonemia in Early Childhood
作者:
Clara D. van Karnebeek
1
;
2
;
3
;
4
;
cvankarnebeek@cw.bc.ca" class="auth_mail
;
William S. Sly
9
;
Colin J. Ross
2
;
3
;
4
;
Ramona Salvarinova
1
;
2
;
3
;
Joy Yaplito-Lee
10
;
Saikat Santra
11
;
Casper Shyr
3
;
4
;
5
;
Gabriella A. Horvath
1
;
2
;
3
;
Patrice Eydoux
3
;
5
;
8
;
Anna M. Lehman
3
;
5
;
Virginie Bernard
3
;
4
;
5
;
Theresa Newlove
3
;
6
;
Henry Ukpeh
2
;
Anupam Chakrapani
11
;
Mary Anne Preece
12
;
Sarah Ball
12
;
James Pitt
10
;
13
;
Hilary D. Vallance
3
;
7
;
8
;
Marion Coulter-Mackie
2
;
3
;
Hien Nguyen
9
;
Lin-Hua Zhang
2
;
3
;
4
;
Amit P. Bhavsar
3
;
4
;
5
;
Graham Sinclair
3
;
7
;
8
;
Abdul Waheed
9
;
Wyeth W. Wasserman
3
;
4
;
5
;
Sylvia Stockler-Ipsiroglu
1
;
2
;
3
刊名:The American Journal of Human Genetics
出版年:6 March, 2014
8.
Congenital Genetic Inborn Errors of Metabolism Presenting as an Adult or Persisting Into Adulthood: Neuroimaging in the More Common or Recognizable Disorders
作者:
Shri H. Krishna
;
MD
鈦?/sup>
;
&dagger
;
;
Alexander M. McKinney
;
MD
鈦?/sup>
;
&dagger
;
;
mckinrad@umn.edu" class="auth_mail
;
Leandro T. Lucato
;
MD
&Dagger
;
刊名:Seminars in Ultrasound, CT, and MRI
出版年:April, 2014
9.
Threshold for toxicity from hyperammonemia in critically ill children
作者:
Bruno Ozanne
;
John Nelson
;
Jocelyne Cousineau
;
Marie Lambert
;
Vé
;
ronique Phan
;
Grant Mitchell
;
Fernando Alvarez
;
Thierry Ducruet
;
Philippe Jouvet
;
;
;
philippe.jouvet@umontreal.ca
关键词:
Hyperammonemia
;
Liver failure
;
Urea
cycle
defect
;
Toxicity
;
Threshold
刊名:Journal of Hepatology
出版年:2012
10.
Hepatocellular carcinoma in a research subject with ornithine transcarbamylase deficiency
作者:
James M. Wilson
a
;
wilsonjm@mail.med.upenn.edu
;
Oleg A. Shchelochkov
b
;
Renata C. Gallagher
c
;
Mark L. Batshaw
d
关键词:
Urea
cycle
disorders (UCDs)
;
Ornithine transcarbamylase deficiency (OTCD)
;
Hepatocellular carcinoma (HCC)
;
Gene therapy
;
Adenovirus
刊名:Molecular Genetics and Metabolism
出版年:2012
1
2
3
4
5
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