设为首页
收藏本站
网站地图
|
English
|
公务邮箱
About the library
Background
History
Leadership
Organization
Readers' Guide
Opening Hours
Collections
Help Via Email
Publications
Electronic Information Resources
常用资源
电子图书
期刊论文
学位会议
外文资源
特色专题
内部出版物
CNKI学位论文(22)
知网期刊论文(4)
在“
Elsevier电子期刊
”中,
命中:
54
条,耗时:小于0.01 秒
在所有数据库中总计命中:
26
条
1.
Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome
作者:
Machteld M. Oud
1
;
26
;
machteld.oud@radboudumc.nl
;
Paul Tui
j
nenburg
2
;
3
;
26
;
Ma
j
a Hempel
4
;
26
;
Naomi van Vlies
5
;
Zemin Ren
6
;
Sacha Ferdinandusse
5
;
Machiel H.
J
ansen
2
;
3
;
René
;
Santer
7
;
J
essika Johannsen
7
;
Chiara Bacchelli
8
;
Marielle Alders
9
;
Rui Li
10
;
11
;
Rosalind Davies
8
;
Lucie Dupuis
12
;
Catherine M. Cale
13
;
Ronald
J
.A.
Wanders
5
;
Steven T. Pals
6
;
Louise Ocaka
8
;
Chela
J
ames
8
;
Ingo Mü
;
ller
14
;
Kai Lehmberg
14
;
Tim Strom
15
;
16
;
Hartmut Engels
17
;
Hywel
J
. Williams
8
;
Phil Beales
8
;
Ronald
Roepman
1
;
Patricia Dias
18
;
Han G. Brunner
1
;
J
an-Maarten Cobben
19
;
20
;
Christine Hall
21
;
Taila Hartley
22
;
Polona Le Quesne Stabe
j
8
;
Roberto Mendoza-Londono
12
;
E. Graham Davies
8
;
13
;
Sé
;
rgio B. de Sousa
8
;
23
;
24
;
Davor Lessel
4
;
27
;
Heleen H. Arts
1
;
25
;
27
;
Taco W. Kui
j
pers
2
;
27
;
t.w.kui
j
pers@amc.uva.nl
关键词:
exostosin
;
EXTL3
;
T cell SCID
;
heparan sulfate
;
neuro-immuno-skeletal dysplasia
刊名:The American
J
ournal of Human Genetics
出版年:2017
2.
Human disorders of peroxisome metabolism and biogenesis
作者:
Hans R. Waterham
;
h.r.waterham@amc.uva.nl" class="auth_mail" title="E-mail the corresponding author
;
Sacha Ferdinandusse
;
Ronald
J
.A.
Wanders
关键词:
ACAA1
;
3-ketoacyl-CoA thiolase
;
ACOX1
;
Acyl-CoA oxidase 1
;
ACOX2
;
acyl-CoA oxidase 2
;
ABCD1
;
ABC transporter D1
;
ABCD2
;
ABC transporter D2
;
ABCD3
;
ABC transporter D3
;
AGPS
;
alkyl-dihydroxyacetonephosphate synthase
;
AGT
;
alanine-glyoxylate aminotransferase
;
AMACR
;
2-methylacyl-CoA racemace
;
BAAT
;
Bile acid&ndash
;
CoA
;
amino acid N-acyltransferase
;
brAcyl
;
branched-acyl
;
CA
;
cholic acid
;
CAT
;
catalase
;
CDCA
;
chenodeoxycholic acid
;
CoA
;
coenzyme A
;
DBP
;
D-bifunctional protein
;
DCA
;
dicarboxylic acids
刊名:Biochimica et Biophysica Acta (BBA)-Molecular Cell Research
出版年:2016
3.
Malnutrition-associated liver steatosis and ATP depletion is caused by peroxisomal and mitochondrial dysfunction
作者:
Tim van Zutphen
1
;
&dagger
;
;
J
olita Ciapaite
1
;
2
;
&dagger
;
;
Vincent W. Bloks
1
;
Cameron Ackereley
3
;
Albert Gerding
1
;
Angelika
J
urdzinski
1
;
Roberta Allgayer de Moraes
1
;
Ling Zhang
4
;
J
ustina C. Wolters
2
;
5
;
Rainer Bischoff
2
;
5
;
Ronald
J
.
Wanders
6
;
Sander M. Houten
6
;
Dana Bronte-Tinkew
7
;
Tatiana Shatseva
7
;
Gary F. Lewis
8
;
Albert K. Groen
1
;
Dirk-
J
an Rei
j
ngoud
1
;
Barbara M. Bakker
1
;
2
;
J
ohan W. Jonker
1
;
Peter K. Kim
7
;
10
;
&Dagger
;
;
pkim@sickkids.ca" class="auth_mail" title="E-mail the corresponding author
;
Robert H.
J
. Bandsma
1
;
4
;
9
;
11
;
&Dagger
;
;
robert.bandsma@sickkids.ca" class="auth_mail" title="E-mail the corresponding author
刊名:
J
ournal of Hepatology
出版年:2016
4.
A role for the human peroxisomal half-transporter ABCD3 in the oxidation of dicarboxylic acids
作者:
Carlo W.T. van Roermund
;
c.vanroermund@amc.uva.nl" class="auth_mail
;
Lodewi
j
k IJlst
;
Tom Wagemans
;
Ronald
J
.A.
Wanders
;
Hans R. Waterham
关键词:
Peroxisomes
;
Fatty acid oxidation
;
ABC transporter
;
Fatty acid transport
;
ABCD3
;
Dicarboxylic acid
刊名:Biochimica et Biophysica Acta (BBA)/Molecular and Cell Biology of Lipids
出版年:April, 2014
5.
Residual enzyme activity determines phenotypic severity in mucopolysaccharidosis type I
作者:
Sandra Kingma
;
Tom Wagemans
;
Lodewi
j
k IJlst
;
Eveline Langereis
;
Ronald
Wanders
;
Frits Wi
j
burg
;
Naomi van Vlies
刊名:Molecular Genetics and Metabolism
出版年:2013
6.
New insights on the mechanisms of valproate-induced hyperammonemia: Inhibition of hepatic N-acetylglutamate synthase activity by valproyl-CoA
作者:
Cá
;
tia C.P. Aires
1
;
2
;
Arno van Cruchten
1
;
Lodewi
j
k IJlst
1
;
Isabel Tavares de Almeida
2
;
Marinus Duran
1
;
Ronald
J
.A.
Wanders
1
;
†
;
;
Margarida F.B. Silva
2
;
†
;
;
mbsilva@ff.ul.pt"" rel=""nofollow
关键词:
Hyperammonemia
;
Urea cycle
;
Drug-induced liver in
j
ury
;
Drug-induced hepatotoxicity
;
N
-acetylglutamate synthase
;
N
-acetylglutamate
;
Valproate
;
Valproyl-CoA
刊名:
J
ournal of Hepatology
出版年:2011
7.
Brain pyruvate and 2-oxoglutarate dehydrogenase complexes are mitochondrial targets of the CoA ester of the Refsum disease marker phytanic acid
作者:
Victoria I. Bunik
;
Gü
;
nter Raddatz
;
Ronald
J
.A.
Wanders
and Georg Reiser
关键词:
2-Oxo acid dehydrogenase complex
;
Neurodegeneration
;
Peroxisomal inherited disorder
;
Phytanic acid
;
Long chain acyl-CoA
;
Thiamine
刊名:FEBS Letters
出版年:2006
8.
Identification and characterization of human cardiolipin synthase
作者:
Riekelt H. Houtkooper
;
Hana Akbari
;
Henk van Lenthe
;
Willem Kulik
;
Ronald
J
.A.
Wanders
;
Margrit Frentzen and Fré
;
dé
;
ric M. Vaz
关键词:
Cardiolipin synthase
;
Phosphatidylglycerol
;
CDP-diacylglycerol
;
Substrate specificity
刊名:FEBS Letters
出版年:2006
9.
Measurement of carnitine biosynthesis enzyme activities by tandem mass spectrometry: Differences between the mouse and the rat
作者:
Naomi van Vlies
;
Ronald
J
.A.
Wanders
and Fré
;
dé
;
ric M. Vaz
关键词:
Carnitine
;
6-
N
-Trimethyllysine dioxygenase
;
4-Trimethylaminobutyraldehyde dehydrogenase
;
4-Trimethylaminobutyric acid dioxygenase
;
Carnitine biosynthesis
刊名:Analytical Biochemistry
出版年:2006
10.
Clinical, biochemical, and molecular findings in three patients with 3-hydroxyisobutyric aciduria
作者:
Ference
J
. Loupatty
;
Annemarie van der Steen
;
Lodewi
j
k IJlst
;
J
os P.N. Ruiter
;
Rob Ofman
;
Matthias R. Baumgartner
;
Diana Ballhausen
;
Sei
j
i Yamaguchi
;
Marinus Duran and
Ronald
J
.A.
Wanders
关键词:
Branched-chain amino acids
;
Valine degradation
;
3-Hydroxyisobutyryic aciduria
;
3-Hydroxyisobutyrate dehydrogenase
;
HIBADH
;
Dysmorphic features
刊名:Molecular Genetics and Metabolism
出版年:2006
1
2
3
4
5
6
按检索点细分(54)
作者(54)
按出版年细分(54)
2027年及以后(1)
2017年(1)
2016年(2)
2013年(1)
2011年(1)
2007年(1)
2006年(7)
2005年(6)
2004年(5)
2003年(3)
2002年(3)
2001年(3)
2000年(4)
2000年及以前(16)
NGLC 2004-2010.National Geological Library of China All Rights Reserved.
Add:29 Xueyuan Rd,Haidian District,Beijing,PRC. Mail Add: 8324 mailbox 100083
For exchange or info please contact us via
email
.