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
Wiley电子期刊(1)
SpringerLink电子期刊(10)
Elsevier电子期刊(35)
在“
Elsevier电子期刊
”中,
命中:
35
条,耗时:小于0.01 秒
在所有数据库中总计命中:
46
条
1.
Efficacy of the Ketogenic Diet for the Treatment of Refractory Childhood Epilepsy: Cerebrospinal Fluid Neurotransmitters and Amino Acid Levels
作者:
Andrea Sariego-Jamardo
;
MD
;
juluka18@hotmail.com" class="auth_mail" title="E-mail the corresponding author
;
Angels Garcí
;
a-Cazorla
;
MD
;
PhD
;
Rafael
Artuch
;
MD
;
PhD
;
Esperanza Castejó
n ;
MD
;
Dolores Garcí
;
a-Arenas
;
Marta Molero-Luis
;
PhD
;
Aida Ormazá
;
bal
;
PhD
;
Francesc Xavier Sanmartí
;
MD
;
PhD
关键词:
ketogenic diet
;
refractory epilepsy
;
children
;
cerebrospinal fluid
;
amino acids
;
neurotransmitters
刊名:Pediatric Neurology
出版年:2015
2.
Can folic acid have a role in mitochondrial disorders?
作者:
Aida Ormazabal
1
;
Mercedes Casado
1
;
Marta Molero-Luis
1
;
3
;
Julio Montoya
2
;
3
;
Shamima Rahman
4
;
5
;
Sophie-Beth Aylett
6
;
7
;
Iain Hargreaves
8
;
Simon Heales
6
;
7
;
8
;
Rafael
Artuch
1
;
3
;
r
artuch
@hsjdbcn.org" class="auth_mail" title="E-mail the corresponding author
刊名:Drug Discovery Today
出版年:2015
3.
Alternating Hemiplegia of Childhood With a de Novo Mutation in ATP1A3 and Changes in SLC2A1 Responsive to a Ketogenic Diet
作者:
Adriana Ulate-Campos
;
MD
a
;
aulate@hsjdbcn.org" class="auth_mail
;
Carmen Fons
;
MD
;
PhD
b
;
Rafael
Artuch
;
MD
;
PhD
c
;
Esperanza Castejó
n ;
MD
d
;
Loreto Martorell
;
MD
;
PhD
e
;
Laurie Ozelius
;
MD
;
PhD
f
;
Juan Pascual
;
MD
;
PhD
g
;
Jaume Campistol
;
MD
;
PhD
b
关键词:
alternating hemiplegia of childhood
;
ATP1A3
;
GLUT1 deficiency syndrome
;
GLUT1 DS
;
SLC2A1
;
ketogenic diet
刊名:Pediatric Neurology
出版年:April, 2014
4.
Clinical, biochemical, molecular and therapeutic aspects of 2 new cases of 2-aminoadipic semialdehyde synthase deficiency
作者:
Mireia Tondo
;
Eduardo Calpena
;
Gema Arriola
;
Paloma Sanz
;
Loreto Martorell
;
Aida Ormazabal
;
Esperanza Castejon
;
Manuel Palacin
;
Magdalena Ugarte
;
Carmen Espinos
;
Belen Perez
;
Belen Perez-Due?as
;
Celia P¨¦rez-Cerda
;
Rafael
Artuch
关键词:
AASS
;
¦Á-aminoadipate ¦Ä-semialdehyde synthase
;
MRI
;
Magnetic resonance imaging
;
CSF
;
cerebrospinal fluid
;
PCR
;
polymerase chain reaction
刊名:Molecular Genetics and Metabolism
出版年:2013
5.
Genetic causes of cerebral folate deficiency: clinical, biochemical and therapeutic aspects
作者:
Mercedes Serrano
1
;
Belé
;
n Pé
;
rez-Dueñ
;
as
1
;
Julio Montoya
2
;
Aida Ormazabal
1
;
Rafael
Artuch
1
;
r
artuch
@hsjdbcn.org
刊名:Drug Discovery Today
出版年:2012
6.
Dyskinesias as a Limiting Factor in the Treatment of Segawa Disease
作者:
Eduardo Ló
;
pez-Laso
;
PhD
a
;
elolaso@gmail.com
;
Katrin Beyer
;
PhD
b
;
Thomas Opladen
;
PhD
c
;
Rafael
Artuch
;
PhD
d
;
Rachel Saunders-Pullman
;
MPH
e
刊名:Pediatric Neurology
出版年:2012
7.
Long-chain polyunsaturated fatty acid status in phenylketonuric patients treated with tetrahydrobiopterin
作者:
Maria A. Vilaseca
;
Nilo Lambruschini
;
Lilianne Gó
;
mez-Ló
;
pez
;
Alej
;
ra Gutié
;
rrez
;
Juan Moreno
;
Mireia Tondo
;
Rafael
Artuch
;
Jaume Campistol
关键词:
Phenylketonuria
;
Mild hyperphenylalaninemia
;
Tetrahydrobiopterin
;
BH
4
-therapy
;
Long-chain polyunsaturated fatty acid
;
Docosahexaenoic acid
;
Arachidonic acid
;
n-6 PUFA
;
n-3 PUFA
;
Essential fatty acids
刊名:Clinical Biochemistry
出版年:2010
8.
Screening for congenital disorders of glycosylation (CDG): Transferrin HPLC versus isoelectric focusing (IEF)
作者:
Ester Quintana
;
Aleix Navarro-Sastre
;
José
;
Marí
;
a Herná
;
ndez-Pé
;
rez
;
Judit Garcí
;
a-Villoria
;
Raquel Montero
;
Rafael
Artuch
;
Antonia Ribes
;
Paz Briones
关键词:
Congenital Disorders of Glycosylation (CDG)
;
Sialotransferrin isoforms
;
HPLC
;
Isoelectric focusing (IEF)
刊名:Clinical Biochemistry
出版年:2009
9.
Comparison between high performance liquid chromatography and capillary zone electrophoresis for the diagnosis of congenital disorders of glycosylation
作者:
Ester Quintana
;
Raquel Montero
;
Mercedes Casado
;
Aleix Navarro-Sastre
;
Marí
;
a A. Vilaseca
;
Paz Briones
;
Rafael
Artuch
关键词:
Congenital disorders of glycosylation
;
High performance liquid chromatography
;
Capillary zone electrophoresis
;
Isoelectric focusing
;
Paediatric patients
刊名:Journal of Chromatography B, Analytical Technologies in the Biomedical and Life Sciences
出版年:2009
10.
Mitochondrial diseases mimicking neurotransmitter defects
作者:
Angels Garcia-Cazorla
;
Sofia Duarte
;
Mercedes Serrano
;
Andres Nascimento
;
Aida Ormazabal
;
Ines Carrilho
;
Paz Briones
;
Julio Montoya
;
Rafael
Garesse
;
Pere Sala-Castellvi
;
Mercedes Pineda
;
Rafael
Artuch
关键词:
Cerebrospinal fluid
;
Neurotransmitters
;
Mitochondrial disorders
;
l
-dopa treatment
;
Infantile hypokinetic-rigid syndrome
刊名:Mitochondrion
出版年:2008
1
2
3
4
按检索点细分(35)
作者(35)
按出版年细分(35)
2027年及以后(1)
2015年(2)
2013年(1)
2012年(2)
2010年(1)
2009年(2)
2008年(7)
2007年(2)
2006年(3)
2005年(3)
2004年(2)
2003年(2)
2002年(2)
2001年(2)
2000年(2)
2000年及以前(1)
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
.