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SpringerLink电子期刊(14)
Elsevier电子期刊(25)
ACS电子期刊(3)
在“
Elsevier电子期刊
”中,
命中:
25
条,耗时:小于0.01 秒
在所有数据库中总计命中:
42
条
1.
The M405V allele of the glutaryl-CoA dehydrogenase gene is an important marker for glutaric aciduria type I (GA-I) low excretors
作者:
Lori-Anne P. Schillaci
a
;
1
;
Carol L. Greene
b
;
Erin Strovel
b
;
Jessica Rispoli-Joines
b
;
Elaine Spector
c
;
Michael Woontner
c
;
Gunter Scharer
c
;
Gregory M. Enns
d
;
Renata Gallagher
e
;
Arthur B. Zinn
a
;
g
;
Shawn E. McCandless
a
;
f
;
g
;
Charles L. Hoppel
h
;
i
;
Stephen I. Goodman
c
;
Jirair K. Bedoyan
a
;
f
;
g
;
1
;
jirair.bedoyan@uhhospitals.org" class="auth_mail" title="E-mail the corresponding author
关键词:
GCDH
;
Glutaryl-CoA dehydrogenase
;
Glutaric aciduria
;
Low excretor
;
Newborn screen
;
Urinary
acylcarnitines
刊名:Molecular Genetics and Metabolism
出版年:2016
2.
The first Mongolian cases of phenylketonuria in selective screening of inborn errors of metabolism
作者:
Jamiyan Purevsuren
a
;
p_jamiyand@yahoo.com
;
Baasandai Bolormaa
a
;
Chogdon Narantsetseg
a
;
Renchindorj Batsolongo
a
;
Ochirbat Enkhchimeg
a
;
Munkhuu Bayalag
a
;
Yuki Hasegawa
b
;
Haruo Shintaku
c
;
SeijiYamaguchi
b
关键词:
Phenylketonuria
;
Inborn errors of metabolism
;
Mongolia
;
Screening
刊名:Molecular Genetics and Metabolism Reports
出版年:2016
3.
Anaplerotic treatment of long-chain fat oxidation disorders with triheptanoin: Review of 15 years Experience
作者:
Charles R. Roe
a
;
c
;
chasroe@earthlink.net" class="auth_mail" title="E-mail the corresponding author
;
Henri Brunengraber
b
关键词:
Triheptanoin
;
Anaplerosis
;
Fat oxidation disorders
;
Ketogenic diet therapy
刊名:Molecular Genetics and Metabolism
出版年:2015
4.
PP09.13 - 2832: A case of acute rhabdomyolysis with intermittent myositis and persistently low levels of Parvovirus B19 infection
作者:
V. Kalra
;
R. Arora
;
G. Briars
;
S. English
;
D.G. O'Donovan
刊名:European Journal of Paediatric Neurology
出版年:2015
5.
Urinary
metabolome identifies signatures of oligozoospermic infertile men
作者:
Jie Zhang
;
Ph.D.
a
;
Zhenzhen Huang
;
Ph.D.
b
;
Minjian Chen
;
Ph.D.
c
;
Yankai Xia
;
Ph.D.
c
;
Francis L. Martin
;
Ph.D.
d
;
Wei Hang
;
Ph.D.
b
;
Heqing Shen
;
Ph.D.
a
;
hqshen@iue.ac.cn" class="auth_mail
关键词:
Male infertility
;
oligozoospermia
;
metabolomics
;
urine
刊名:Fertility and Sterility
出版年:July 2014
6.
Ultra-high performance liquid chromatography tandem mass spectrometry for comprehensive analysis of
urinary
acylcarnitines
作者:
Azeret Zuniga
a
;
Liang Li
;
a
;
Liang.Li@ualberta.ca
关键词:
Metabolome analysis
;
Metabolite identification
;
Acylcarnitines
;
Liquid chromatography mass spectrometry
;
Tandem mass spectrometry
;
Ultra-high performance liquid chromatography
;
Metabolomics
刊名:Analytica Chimica Acta
出版年:2011
7.
Bezafibrate can be a new treatment option for mitochondrial fatty acid oxidation disorders: Evaluation by in vitro probe acylcarnitine assay
作者:
Seiji Yamaguchi
;
Hong Li
;
Jamiyan Purevsuren
;
Kenji Yamada
;
Midori Furui
;
Tomoo Takahashi
;
Yuichi Mushimoto
;
Hironori Kobayashi
;
Yuki Hasegawa
;
Takeshi Taketani
;
Toshiyuki Fukao
;
Seiji Fukuda
关键词:
Mitochondrial fatty acid oxidation disorder
;
Bezafibrate
;
New treatment
;
Hypolipidemic drug
;
In vitro probe acylcarnitine assay
;
Peroxisome proliferation activator receptor
刊名:Molecular Genetics and Metabolism
出版年:2012
8.
Two inborn errors of metabolism in a newborn: Glutaric aciduria type I combined with isobutyrylglycinuria
作者:
Manuela Popek
;
Melanie Walter
;
Malkanthi Fern
o ;
Martin Lindner
;
Karl Otfried Schwab
;
Jö
;
rn Oliver Sass
关键词:
Glutaric acid
;
Glutaric aciduria
;
Glutaryl-coenzyme A dehydrogenase
;
GCDH
gene
;
Isobutyrylglycine
;
Isobutyrylglycinuria
;
Isobutyryl-coenzyme dehydrogenase
;
ACAD8
gene
;
Newborn screening
;
Tandem mass spectrometry
;
Acylcarnitines
;
Organic aci
刊名:Clinica Chimica Acta
出版年:2010
9.
Disorders of muscle lipid metabolism: Diagnostic and therapeutic challenges
作者:
Pascal Laforê
t ;
Christine Vianey-Saban
关键词:
Muscle lipidosis
;
Fatty acid oxidation
;
Lipid storage disease
;
Metabolic myopathy
刊名:Neuromuscular Disorders
出版年:2010
10.
Plasma and
urinary
carnitine and
acylcarnitines
in chronic fatigue syndrome
作者:
Mark G. Jones
;
C. Stewart Goodwin
;
Saira Amjad and Ronald A. Chalmers
关键词:
Chronic fatigue syndrome
;
Carnitine
;
Acylcarnitines
;
Urine
;
Blood plasma
刊名:Clinica Chimica Acta
出版年:2005
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