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Elsevier电子期刊(22)
在“
Elsevier电子期刊
”中,
命中:
22
条,耗时:小于0.01 秒
在所有数据库中总计命中:
22
条
1.
221 newborn-screened neonates with medium-chain acyl-coenzyme A dehydrogenase deficiency: Findings from the Inborn Errors of Metabolism Collaborative
作者:
Kristi Bentler
a
;
Shaohui Zhai
b
;
Sara A. Elsbecker
c
;
Georgianne L. Arnold
d
;
Barbara K. Burton
e
;
Jerry Vockley
d
;
Cynthia A. Cameron
b
;
Sally J. Hiner
b
;
Mathew J. Edick
b
;
Susan A. Berry
c
;
1
;
2
;
berry002@umn.edu" class="auth_mail" title="E-mail the corresponding author
;
On behalf of the Inborn Errors of Metabolism CollaborativeJanet Thomas
g
;
Melinda Dodge
g
;
Rani Singh
h
;
Sangeetha Lakshman
h
;
Katie Coakley
h
;
Adrya Stembridge
h
;
Alvaro Serrano Russi
i
;
Emily Phillips
i
;
Barbara Burton
j
;
Clare Edano
j
;
Sheela Shrestha
j
;
George Hoganson
;
Lauren Dwyer
k
;
Bryan Hainline
l
;
Susan Romie
l
;
Sarah Hainline
l
;
Alexander Asamoah
m
;
Kara Goodin
m
;
Cecilia Rajakaruna
m
;
Kelly Jackson
m
;
Ada Hamosh
n
;
Hilary Vernon
n
;
Nancy Smith
n
;
Ayesha Ahmad
o
;
Sue Lipinski
o
;
Gerald Feldman
p
;
Susan Berry
q
;
Sara Elsbecker
q
;
Kristi Bentler
r
;
Esperanza Font-Montgomery
s
;
Dawn Peck
s
;
Loren D.M. Pena
t
;
Dwight D. Koeberl
t
;
Yong-hui Jiang
t
;
Priya S. Kishnani
t
;
William Rizzo
u
;
Machelle Dawson
u
;
Nancy Ambrose
u
;
Paul Levy
v
;
David Kronn
w
;
Chin-to Fong
x
;
Kristin D&rsquo
;
Aco
x
;
Theresa Hart
x
;
Richard Erbe
y
;
Melissa Samons
y
;
Nancy Leslie
z
;
Racheal Powers
z
;
Dennis Bartholomew
aa
;
Melanie Goff
aa
;
Sandy vanCalcar
ab
;
Joyanna Hansen
ab
;
Georgianne Arnold
ac
;
Jerry Vockley
ac
;
Cate Walsh-Vockley
ad
;
William Rhead
ad
;
David Dimmock
ad
;
Paula Engelking
ad
;
Cassie Bird
ad
;
Ashley Swan
ad
;
Jessica Scott Schwoerer
ae
;
Sonja Henry
ae
;
TaraChandra Narumanchi
af
;
Marybeth Hummel
af
;
Jennie Wilkins
af
;
Laura Davis-Keppen
ag
;
Quinn Stein
ag
;
Rebecca Loman
ag
;
Cynthia Cameron
ah
;
Mathew J. Edick
ah
;
Sally J. Hiner
ah
;
Kaitlin Justice
ah
;
Shaohui Zhai
ah
关键词:
Medium-chain acyl-coenzyme A dehydrogenase deficiency
;
MCAD
;
Octanoylcarnitine
;
ACADM
;
Newborn screening
;
Inborn error of metabolism
刊名:Molecular Genetics and Metabolism
出版年:2016
2.
Disruption of redox homeostasis in cerebral cortex of developing rats by acylcarnitines accumulating in medium-chain acyl-CoA dehydrogenase deficiency
作者:
Anelise M. Tonin
a
;
Mateus Grings
a
;
Lisiane A. Knebel
a
;
Â
;
ngela Zanatta
a
;
Alana P. Moura
a
;
Cé
;
sar A.J. Ribeiro
a
;
Guilhian Leipnitz
a
;
Moacir Wajner
a
;
b
;
mwajner@ufrgs.br
关键词:
HA
;
hexanoic acid
;
HC
;
hexanoylcarnitine
;
HG
;
hexanoylglycine
;
OC
;
octanoylcarnitine
;
DC
;
decanoylcarnitine
;
cDC
;
cis-4-decenoylcarnitine
;
MCAC
;
medium-chain acylcarnitines
刊名:International Journal of Developmental Neuroscience
出版年:2012
3.
Sequencing from dried blood spots in infants with ¡°false positive¡± newborn screen for MCAD deficiency
作者:
Shawn E. McCandless
a
;
b
;
shawn.mccandless@case.edu
;
Ram Chandrasekar
c
;
ram.chandrasekar@odh.ohio.gov
;
Sharon Linard
c
;
sharon.linard@odh.ohio.gov
;
Sandra Kikano
a
;
sandra.kikano@case.edu
;
Lorrie Rice
a
;
lorrie.rice@case.edu
关键词:
Medium-chain acyl-CoA dehydrogenase deficiency
;
Fatty acid oxidation disorders
;
Newborn screening
;
Dried blood spots
刊名:Molecular Genetics and Metabolism
出版年:2013
4.
Brown adipose tissue mitochondria oxidizing fatty acids generate high levels of reactive oxygen species irrespective of the uncoupling protein-1 activity state
作者:
Peter Schö
;
nfeld
a
;
peter.schoenfeld@med.ovgu.de
;
Lech Wojtczak
b
关键词:
AR
;
Amplex Red
;
BAT
;
brown adipose tissue
;
BATM
;
brown adipose tissue mitochondria
;
ButC
;
butyrylcarnitine
;
DecC
;
decanoylcarnitine
;
DPI
;
diphenyleneiodonium
;
ETF
;
electron transferring flavoprotein
;
FCCP
;
carbonylcyanide-p-trifluoromethoxyphenyl-hydrazon
刊名:Biochimica et Biophysica Acta (BBA)/Bioenergetics
出版年:2012
5.
Lack of genotype–phenotype correlations and outcome in MCAD deficiency diagnosed by newborn screening in New York State
作者:
Georgianne L. Arnold
;
Carlos A. Saavedra-Matiz
;
Patricia A. Galvin-Parton
;
Richard Erbe
;
Ellen DeVincentis
;
David Kronn
;
Shideh Mofidi
;
Melissa Wasserstein
;
Joan E. Pellegrino
;
Paul A. Levy
;
Darius J.
关键词:
Fatty acid oxidation defect
;
Medium chain acyl-CoA dehydrogenase deficiency
;
Octanoylcarnitine
;
Newborn screening
;
Outcome
刊名:Molecular Genetics and Metabolism
出版年:2010
6.
Mitochondrial fatty acid oxidation and oxidative stress: Lack of reverse electron transfer-associated production of reactive oxygen species
作者:
Peter Schö
;
nfeld
;
Mariusz R. Wię
;
ckowski
;
Magdalena Lebiedziń
;
ska
;
Lech Wojtczak
关键词:
Fatty acid oxidation
;
Reverse electron transfer
;
Reactive oxygen species (ROS)
;
Mitochondrion
;
Respiratory chain complex
刊名:Biochimica et Biophysica Acta (BBA)/Bioenergetics
出版年:2010
7.
Allelic diversity in MCAD deficiency: The biochemical classification of 54 variants identified during 5 years of ACADM sequencing
作者:
Emily H. Smith
;
Cheryl Thomas
;
David McHugh
;
Dimitar Gavrilov
;
Kimiyo Raymond
;
Piero Rinaldo
;
Silvia Tortorelli
;
Dietrich Matern
;
W. Edward Highsmith
;
Devin Oglesbee
关键词:
Medium-chain acyl-coA dehydrogenase
;
Fatty acid oxidation
;
Biochemical genetics
;
Gene sequencing
;
Variant of unknown significance
;
Newborn screening
;
In silico
刊名:Molecular Genetics and Metabolism
出版年:2010
8.
Sudden death in medium chain acyl-coenzyme a dehydrogenase deficiency (MCADD) despite newborn screening
作者:
Roman Yusupov
;
David N. Finegold
;
Edwin W. Naylor
;
Inderneel Sahai
;
Susan Waisbren
;
Harvey L. Levy
关键词:
Medium chain acyl-coenzyme A dehydrogenase deficiency
;
MCADD
;
Fatty acid oxidation disorder
;
Newborn screening
;
Sudden death
刊名:Molecular Genetics and Metabolism
出版年:2010
9.
Medium-chain acyl-CoA dehydrogenase deficiency: Genotype–biochemical phenotype correlations
作者:
Leigh Waddell
;
Veronica Wiley
;
Kevin Carpenter
;
Bruce Bennetts
;
Lyn Angel
;
Brage S. Andresen and Bridget Wilcken
关键词:
Newborn screening
;
Fatty acid oxidation
;
c.583G >
;
A
;
c.199T >
;
C
;
Octanoylcarnitine
;
Tandem mass spectrometry
;
MCAD
刊名:Molecular Genetics and Metabolism
出版年:2006
10.
Quantification of malonylcarnitine in dried blood spots by use of MS/MS varies by stable isotope internal standard composition
作者:
Donald H. Chace
;
Timothy Lim
;
Christina R. Hansen
;
Barbara W. Adam
;
W. Harry Hannon
关键词:
MS/MS
;
Acylcarnitines
;
Quality control
;
Isotope dilution
;
Internal standards
刊名:Clinica Chimica Acta
出版年:2009
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