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SpringerLink电子期刊(18)
NATURE电子期刊(1)
Elsevier电子期刊(37)
ACS电子期刊(1)
在“
Elsevier电子期刊
”中,
命中:
37
条,耗时:小于0.01 秒
在所有数据库中总计命中:
57
条
1.
The catarrhal child
作者:
Glenis K.
Scad
ding
关键词:
adenoid hypertrophy
;
allergy
;
catarrh
;
cystic fibrosis
;
immune
deficiency
;
nasal congestion
;
nasal discharge
;
nasal obstruction
;
paediatric rhinitis
;
paediatric rhinosinusitis
;
primary ciliary dyskinesia
;
rhinorrhoea
刊名:Paediatrics and Child Health
出版年:2016
2.
Proteomic investigation of cultivated fibroblasts from patients with mitochondrial short-chain acyl-CoA dehydrogenase
deficiency
作者:
Anders V. Edhager
;
Vibeke Stenbroen
;
Nadia Sukusu Nielsen
;
Peter Bross
;
Rikke K.J. Olsen
;
Niels Gregersen
;
Johan Palmfeldt
;
johan.palmfeldt@ki.au.dk" class="auth_mail
关键词:
AcN
;
Acetonitrile
;
DMEM
;
Dulbecco's modified eagle medium
;
FAO
;
Fatty acid oxidation
;
nanoLC&ndash
;
MS/MS
;
nanoliquid chromatography tandem mass spectrometry
;
NHDF
;
Normal human dermal fibroblasts
;
ROS
;
Reactive oxygen species
;
RT-PCR
;
Real time-polymerase chain reaction
;
SCAD
D
;
Short-chain acyl-CoA dehydrogenase
deficiency
;
SDS-PAGE
;
Sodium dodecyl sulfate polyacrylamide gel electrophoresis
刊名:Molecular Genetics and Metabolism
出版年:March, 2014
3.
Complex changes in the liver mitochondrial proteome of short chain acyl-CoA dehydrogenase deficient mice
作者:
Wei Wang
a
;
b
;
wangwei@shchildren.com.cn" class="auth_mail
;
Al-Walid Mohsen
c
;
Guy Uechi
d
;
Emanuel Schreiber
d
;
Manimalha Balasubramani
d
;
Billy Day
d
;
M. Michael Barmada
b
;
Jerry Vockley
b
;
c
;
e
关键词:
EMA
;
ethylmalonic acid
;
ETC.
;
electron transport chain
;
FAO
;
fatty acid oxidation
;
iTRAQ
;
isobaric tags for relative and absolute quantification
;
LC
;
liquid chromatography
;
MALDI-TOF/TOF
;
matrix assisted laser desorption ionization time of flight/time of flight
;
MS
;
mass spectrometry
;
OTC
;
ornithine transcarbamylase
;
OXPHOS
;
oxidative phosphorylation
;
SCAD
;
short-chain acyl-CoA dehydrogenase
;
SCAD
D
;
short-chain acyl-CoA dehydrogenase
deficiency
;
SDS-PAGE
;
sodium dodecyl sulfate-polyacrylamide ge
刊名:Molecular Genetics and Metabolism
出版年:May 2014
4.
Biochemical, molecular, and clinical characteristics of children with short chain acyl-CoA dehydrogenase
deficiency
detected by newborn screening in California
作者:
Natalie M. Gallant
a
;
b
;
Karen Leydiker
c
;
Hao Tang
d
;
Lisa Feuchtbaum
d
;
Fred Lorey
d
;
Rebecca Puckett
c
;
Joshua L. Deignan
e
;
Julie Neidich
f
;
Naghmeh Dorrani
a
;
b
;
Erica Chang
a
;
b
;
Bruce A. Barshop
g
;
Stephen D. Cederbaum
a
;
b
;
Jose E. Abdenur
c
;
jabdenur@choc.org
;
Raymond Y. Wang
c
关键词:
Newborn screening
;
Short chain acyl-CoA dehydrogenase
;
Short chain acyl-CoA dehydrogenase
deficiency
;
ACADS
;
SCAD
;
Clinical outcome
刊名:Molecular Genetics and Metabolism
出版年:2012
5.
Measurement of tissue acyl-CoAs using flow-injection tandem mass spectrometry: acyl-CoA profiles in short-chain fatty acid oxidation defects
作者:
Andrew A. Palladino
a
;
Jie Chen
b
;
Staci Kallish
b
;
Charles A. Stanley
a
;
Michael J. Bennett
b
;
bennettmi@email.chop.edu
关键词:
Acyl-coenzyme A's
;
Fatty acid oxidation defects
;
Biomarkers
;
SCAD
deficiency
;
SCHAD
deficiency
刊名:Molecular Genetics and Metabolism
出版年:2012
6.
Mutations at the flavin binding site of ETF:QO yield a MADD-like severe phenotype in Drosophila
作者:
Ema Alves
a
;
b
;
Bá
;
rbara J. Henriques
a
;
Joã
;
o V. Rodrigues
a
;
Pedro Prudê
;
ncio
b
;
Hugo Rocha
c
;
Laura Vilarinho
c
;
Rui G. Martinho
b
;
d
;
rmartinho@igc.gulbenkian.pt
;
Clá
;
udio M. Gomes
a
;
gomes@itqb.unl.pt
;
关键词:
FAO
;
fatty acid ¦Â-oxidation
;
MADD
;
multiple acyl-CoA dehydrogenase
deficiency
;
ETF
;
QO
;
electron transfer flavoprotein
;
ubiquinone oxidoreductase
;
ETF
;
electron transfer flavoprotein
;
CoA
;
coenzyme A
;
MCAD
;
medium chain acyl-CoA dehydrogenase
;
SCAD
;
short
刊名:Biochimica et Biophysica Acta (BBA)/Molecular Basis of Disease
出版年:2012
7.
Short-chain acyl-CoA dehydrogenase (
SCAD
)
deficiency
: An examination of the medical and neurodevelopmental characteristics of 14 cases identified through newborn screening or clinical symptoms
作者:
S.E. Waisbren
;
H.L. Levy
;
M. Noble
;
D. Matern
;
N. Gregersen
;
K. Pasley
;
D. Marsden
关键词:
Short-chain acyl-CoA dehydrogenase
deficiency
(
SCAD
D)
;
Newborn screening
;
Psychological follow-up
刊名:Molecular Genetics and Metabolism
出版年:2008
8.
Evidence for involvement of medium chain acyl-CoA dehydrogenase in the metabolism of phenylbutyrate
作者:
Kaitlyn Kormanik
a
;
b
;
Heejung Kang
a
;
b
;
Dean Cuebas
c
;
Jerry Vockley
a
;
b
;
Al-Walid Mohsen
a
;
aam27@pitt.edu
关键词:
ACAD
;
acyl-CoA dehydrogenase
;
ETF
;
electron transfer flavoprotein
;
LCAD
;
long chain acyl-CoA dehydrogenase
;
MCAD
;
medium chain acyl-CoA dehydrogenase
;
SCAD
;
short chain acyl-CoA dehydrogenase
;
VLCAD
;
very long chain acyl-CoA dehydrogenase
刊名:Molecular Genetics and Metabolism
出版年:2012
9.
Ethylmalonic acid impairs brain mitochondrial succinate and malate transport
作者:
Alexandre Umpierrez Amaral
a
;
Cristiane Cecatto
a
;
Estela Natasha Brandt Busanello
a
;
Cé
;
sar Augusto Joã
;
o Ribeiro
a
;
Daniela Rodrigues Melo
c
;
Guilhian Leipnitz
a
;
Roger Frigé
;
rio Castilho
c
;
Moacir Wajner
a
;
b
;
mwajner@ufrgs.br
关键词:
ANOVA
;
one-way analysis of variance
;
BtMA
;
butylmalonic acid
;
BSA
;
bovine serum albumin
;
BM
;
brain mitochondria
;
CCCP
;
carbonyl cyanide m-chloro phenyl hydrazone
;
DNP
;
dinitrophenol
;
EDTA
;
ethylenediaminetetraacetic acid
;
EGTA
;
ethylene glycol-bis(2-amino
刊名:Molecular Genetics and Metabolism
出版年:2012
10.
Rapid determination of C4-acylcarnitine and C5-acylcarnitine isomers in plasma and dried blood spots by UPLC–MS/MS as a second tier test following flow-injection MS/MS acylcarnitine profile analysis
作者:
Sabrina Forni
;
Xiaowei Fu
;
Susan E. Palmer
;
Lawrence Sweetman
关键词:
Short-chain acylcarnitines
;
Short-chain acyl-CoA dehydrogenase
deficiency
;
Isovaleric acidemia
;
Isobutyryl-CoA dehydrogenase
deficiency
;
2-Methylbutyryl-CoA dehydrogenase
deficiency
;
Pivaloylcarnitine
;
Ultra performance liquid chromatography mass spectrom
刊名:Molecular Genetics and Metabolism
出版年:2010
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