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内部出版物
知网期刊论文(3)
在“
Elsevier电子期刊
”中,
命中:
3
条,耗时:0.0289835 秒
在所有数据库中总计命中:
3
条
1.
Methylmalonyl
-
coA
epimerase deficiency: A new case, with an acute metabolic presentation and an intronic splicing mutation in the MCEE gene
作者:
Paula J. Waters
a
;
1
;
Paula.J.Waters@USherbrooke.ca
;
Fanny Thuriot
a
;
1
;
Fanny.Thuriot@USherbrooke.ca
;
Joe T.R. Clarke
a
;
1
;
joeclarke@sympatico.ca
;
Serge Gravel
a
;
1
;
Serge.Gravel@USherbrooke.ca
;
David Watkins
b
;
2
;
david.watkins@mcgill.ca
;
David S. Rosenblatt
b
;
2
;
david.rosenblatt@mcgill.ca
;
Sé
;
bastien Lé
;
vesque
a
;
1
;
Sebastien.A.Levesque@USherbrooke.ca
关键词:
Methylmalonyl
-
coA
epimerase
;
Methylmalonyl
-
coA
racemase
;
Methylmalonic aciduria
;
Propionic aciduria
;
Complementation analysis
;
Intronic mutation
;
Splicing mutation
刊名:Molecular Genetics and Metabolism Reports
出版年:2016
2.
Propionyl-
CoA
and adenosylcobalamin metabolism in Caenorhabditis elegans: Evidence for a role of
methylmalonyl
-CoA epimerase in intermediary metabolism
作者:
Randy J. Chandler
;
Vijay Aswani
;
Matthew S. Tsai
;
Marni Falk
;
Natasha Wehrli
;
Sally Stabler
;
Robert Allen
;
Margaret Sedensky
;
Haig H. Kazazian and Charles P. Venditti
关键词:
Propionate metabolism
;
Methylmalonic acidemia
;
Methylmalonyl
-
CoA
epimerase
;
Methylmalonyl
-
CoA
mutase
;
Cobalamin
;
C. elegans
;
Methylmalonyl
-
CoA
racemase
;
Mass spectrometry
;
RNA interference
;
Bioinformatics
刊名:Molecular Genetics and Metabolism
出版年:2006
3.
Homozygous nonsense mutation in the MCEE gene and siRNA suppression of
methylmalonyl
-
CoA
epimerase expression: A novel cause of mild methylmalonic aciduria
作者:
C. Melissa Dobson
;
Abigail Gradinger
;
Nicola Longo
;
Xuchu Wu
;
Daniel Leclerc
;
Jordan Lerner-Ellis
;
Melissa Lemieux
;
Caroline Belair
;
David Watkins
;
David S. Rosenblatt and Roy A. Gravel
关键词:
Cobalamin
;
Adenosylcobalamin
;
Methylmalonyl
-
CoA
epimerase
;
Methylmalonyl
-
CoA
racemase
;
cblA
complementation group
;
MCEE
gene
刊名:Molecular Genetics and Metabolism
出版年:2006
1
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2006年(2)
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