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SpringerLink电子期刊(10)
Elsevier电子期刊(11)
在“
Elsevier电子期刊
”中,
命中:
11
条,耗时:小于0.01 秒
在所有数据库中总计命中:
21
条
1.
Chronic early postnatal administration of
ethylmalonic
acid to rats causes behavioral deficit
作者:
Patrí
;
cia Fern
;
a Schuck
;
Gustavo da Costa Ferreira
;
Carolina Maso Viegas
;
Anelise Miotti Tonin
;
Estela Natacha Br
;
t Busanello
;
Leticia Ferreira Pettenuzzo
;
Carlos Alex
;
re Netto
;
Moacir Wajner
关键词:
Ethylmalonic
acid
;
Water maze
;
Elevated plus maze
;
SCAD deficiency
;
Ethylmalonic
aciduria
;
Rat
刊名:Behavioural Brain Research
出版年:2009
2.
Short-chain acyl-CoA dehydrogenase gene mutation (c.319C>T) presents with clinical heterogeneity and is candidate founder mutation in individuals of Ashkenazi Jewish origin
作者:
Ingrid Tein
;
Orly Elpeleg
;
Bruria Ben-Zeev
;
Stanley H. Korman
;
Alex
;
er Lossos
;
Dorit Lev
;
Tally Lerman-Sagie
;
Esther Leshinsky-Silver
;
Jerry Vockley
;
Gerard T. Berry
;
Anne-Marie Lamhonwah
;
Dietrich Ma
关键词:
Fatty acid oxidation
;
Myopathy
;
Multicore myopathy
;
Developmental delay
;
Short-chain acyl-CoA dehydrogenase deficiency
;
Ethylmalonic
aciduria
;
Ashkenazi
刊名:Molecular Genetics and Metabolism
出版年:2008
3.
A case of
ethylmalonic
encephalopathy with atypical clinical and biochemical presentation
作者:
Maja Di Rocco
;
Ubaldo Caruso
;
Egill Briem
;
Andrea Rossi
;
Anna E.M. Allegri
;
Davide Buzzi
;
Valeria Tiranti
关键词:
Ethylmalonic
encephalopathy
;
Vascular fragility
;
Articular hyperlaxity
刊名:Molecular Genetics and Metabolism
出版年:2006
4.
Ethylmalonic
encephalopathy—report of two cases
作者:
Lada Cindro Heberle
;
Asma A. Al Tawari
;
Dina G. Ramadan and Jamila K. Ibrahim
关键词:
Mitochondrial
;
Encephalopathy
;
Petechiae
;
Organic
aciduria
刊名:Brain and Development
出版年:2006
5.
A comparison of in vitro acylcarnitine profiling methods for the diagnosis of classical and variant short chain acyl-CoA dehydrogenase deficiency
作者:
Young
;
Sarah P.
;
Matern
;
Dietrich
;
Gregersen
;
Niels
;
Stevens
;
Robert D.
;
Bali
;
Deeksha
;
Liu
;
Hui-Ming
;
et. al.
关键词:
SCAD deficiency
;
Ethylmalonic
aciduria
;
Polymorphism
;
Acylcarnitine profiling
;
Butyrylcarnitine
;
Tandem mass spectrometry
;
Human skin fibroblasts
;
BCAA
;
branched chain amino acid
;
CV
;
coefficient of variation
;
EMA
;
ethylmalonic
aciduria
;
ESI-MS/MS
;
electr
刊名:Clinica Chimica Acta
出版年:2003
6.
Ethylmalonic
adipic
aciduria
- a treatable hepatomuscular disorder in two adult brothers
作者:
Elias
;
Elwyn
;
Gray
;
Raymond G.F.
;
Poulton
;
Kelvin
;
Green
;
Anne
关键词:
Ethylmalonic
adipic
aciduria
;
Fatty acid oxidation defects
;
Reye's syndrome
刊名:Journal of Hepatology
出版年:1997
7.
Riboflavin-responsive glutaric
aciduria
type II with recurrent pancreatitis
作者:
Liang
;
Wen-Chen
;
Tsai
;
Kun-Bon
;
Lai
;
Chiou-Lian
;
Chen
;
Liang-Hui
;
Jong
;
Yuh-Jyh
刊名:Pediatric Neurology
出版年:2004
8.
Homozygosity for a severe novel medium-chain acyl-CoA dehydrogenase (MCAD) mutation IVS3-1G
>
C that leads to introduction of a premature termination codon by complete missplicing of the MCAD
作者:
Korman
;
Stanley H.
;
Gutman
;
Alisa
;
Brooks
;
Rivka
;
Sinnathamby
;
Thayline
;
Gregersen
;
Niels
;
et. al.
关键词:
Sudden infant death
;
Medium-chain acyl-CoA dehydrogenase
;
Splice mutation
;
Genotype/phenotype correlation
;
Ethylmalonic
aciduria
;
Short-chain acyl-CoA dehydrogenase
刊名:Molecular Genetics and Metabolism
出版年:2004
9.
Ethylmalonic
and methylsuccinic
aciduria
in
ethylmalonic
encephalopathy arise from abnormal isoleucine metabolism
作者:
Malgorzata J. M. Nowaczyk
;
Denis C. Lehotay
;
B. -A. Platt
;
Larry Fisher
;
Rosemary Tan
;
Helen Phillips
;
J. T. R. Clarke
刊名:Metabolism
出版年:1998
10.
Clinical and brain
18
fluoro-2-deoxyglucose positron emission tomographic findings in
ethylmalonic
aciduria
, a progressive neurometabolic disease
作者:
Mohammed A. Al-Essa
;
Layla A. Al-Shamsan
;
Pinar T. Oz
刊名:European Journal of Paediatric Neurology
出版年:1999
1
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