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内部出版物
Wiley电子期刊(1)
SpringerLink电子期刊(10)
Elsevier电子期刊(35)
在“
SpringerLink电子期刊
”中,
命中:
10
条,耗时:小于0.01 秒
在所有数据库中总计命中:
46
条
1.
A capillary electrophoresis procedure for the screening of oligosaccharidoses and related diseases
作者:
Mercedes Casado (1) (2)
Laura Altimira (1)
Raquel Montero (1)
Esperanza Castejón (3)
Andrés Nascimento (4)
Belén Pérez-Due?as (4)
Aida Ormazabal (1)
Rafael
Artuch
(1)
关键词:
Capillary electrophoresis
;
Laser
;
induced fluorescence detection
;
Oligosaccharidoses
;
Pediatric patients
刊名:Analytical and Bioanalytical Chemistry
出版年:2014
2.
Transcriptomic profiling of TK2 deficient human skeletal muscle suggests a role for the p53 signalling pathway and identifies growth and differentiation factor-15 as a potential novel biomarker for mitochondrial myopathies
作者:
Susana Graciela Kalko (1)
Sonia Paco (2)
Cristina Jou (2) (3)
Maria Angels Rodríguez (2)
Marija Meznaric (4)
Mihael Rogac (5)
Maja Jekovec-Vrhovsek (5)
Monica Sciacco (6)
Maurizio Moggio (6)
Gigliola Fagiolari (6)
Boel De Paepe (7)
Linda De Meirleir (7)
Isidre Ferrer (8)
Manel Roig-Quilis (9)
Francina Munell (9)
Julio Montoya (10) (11)
Ester López-Gallardo (10) (11)
Eduardo Ruiz-Pesini (10) (11)
Rafael
Artuch
(11) (12)
Raquel Montero (11) (12)
Ferran Torner (13)
Andres Nascimento (11) (2)
Carlos Ortez (2)
Jaume Colomer (11) (2)
Cecilia Jimenez-Mallebrera (11) (2)
关键词:
Gene expression
;
Microarrays
;
Bioinformatics
;
Mitochondrial DNA
;
Mitochondrial DNA depletion
;
Mitochondrial encephalomyopathy
;
Thymidine kinase 2
;
Skeletal muscle
;
p53
;
Apoptosis
;
GDF
;
15
刊名:BMC Genomics
出版年:2014
3.
Characterization of CoQ10 biosynthesis in fibroblasts of patients with primary and secondary CoQ10 deficiency
作者:
Nuria Buján (1)
Angela Arias (1)
Raquel Montero (2)
Judit García-Villoria (1)
Willy Lissens (3)
Sara Seneca (3)
Carmen Espinós (4)
Plácido Navas (5)
Linda De Meirleir (3)
Rafael
Artuch
(2)
Paz Briones (6)
Antonia Ribes (1)
刊名:Journal of Inherited Metabolic Disease
出版年:2014
4.
Development of the serotonergic cells in murine raphe nuclei and their relations with rhombomeric domains
作者:
Antonia Alonso (1)
Paloma Merchán (2)
Juan E. Sandoval (3)
Luisa Sánchez-Arrones (4)
Angels Garcia-Cazorla (5) (6)
Rafael
Artuch
(5) (6)
José L. Ferrán (1)
Margaret Martínez-de-la-Torre (1)
Luis Puelles (1)
关键词:
Hindbrain
;
Rhombomeres
;
Serotonin
;
Midbrain
;
Pet1
;
Lmx1b
刊名:Brain Structure and Function
出版年:2013
5.
Guiametabolica.org: empowerment through internet tools in inherited metabolic diseases
作者:
Manuel Armayones (1)
M Antònia Vilaseca (2)
Júlia Cutillas (3)
Jordi Fàbrega (3)
Jorge Juan Fernández (3)
Mei García (4)
Natàlia Egea (3)
Modesta Pousada (1)
Beni Gómez-Zu?iga (1)
Jaume Pérez-Payarols (3)
Rafael
Artuch
(2)
Francesc Palau (5)
Mercedes Serrano (2)
关键词:
Dietary treatment
;
E
;
patient
;
Inborn errors of metabolism
;
Inherited metabolic diseases
;
Patient empowerment
刊名:Orphanet Journal of Rare Diseases
出版年:2012
6.
Combined Therapy with Idebenone and Deferiprone in Patients with Friedreich’s Ataxia
作者:
Daniel Velasco-Sánchez (1) (2)
Asuncion Aracil (3)
Raquel Montero (4)
Ana Mas (5)
Lorenzo Jiménez (1)
Mar O’Callaghan (3)
Maria Tondo (4)
Antoni Capdevila (6)
Josep Blanch (6)
Rafael
Artuch
(4)
Mercedes Pineda (3)
关键词:
Friedreich’s ataxia
;
Iron chelator
;
Deferiprone
;
Idebenone
刊名:The Cerebellum
出版年:2011
7.
Progressive ataxia and myoclonic epilepsy in a patient with a homozygous mutation in the
FOLR1
gene
作者:
Bel¨¦n P¨¦rez-Due?as
;
Claudio Toma
;
Aida Ormaz¨¢bal
;
Jordi Muchart
;
Francesc Sanmart¨ª
;
Georgina Bombau
;
Mercedes Serrano
;
Angels Garc¨ªa-Cazorla
;
Bru Cormand and
Rafael
Artuch
刊名:Journal of Inherited Metabolic Disease
出版年:2010
8.
Cranial ultrasound and chronological changes in molybdenum cofactor deficiency
作者:
Mercedes Serrano
;
Isabel Lizarraga
;
Jochen Reiss
;
Anna Paula Dias
;
Belén Pérez-Due?as
;
Maria Antonia Vilaseca
;
Rafael
Artuch
;
Jaume Campistol and Angels García-Cazorla
关键词:
Molybdenum cofactor
;
Cranial US
;
MRI
;
Infant
刊名:Pediatric Radiology
出版年:2007
9.
Clinical, biochemical and molecular aspects of cerebellar ataxia and Coenzyme Q10 deficiency
作者:
Raquel Montero (1)
Mercé Pineda (2)
Asun Aracil (2)
Maria-Antonia Vilaseca (1)
Paz Briones (3)
José-Antonio Sánchez-Alcázar (4)
Plácido Navas (4)
Rafael
Artuch
(1)
关键词:
Cerebellum
;
ataxia
;
coenzyme Q10 deficiency
;
mitochondrial respiratory chain
刊名:The Cerebellum
出版年:2007
10.
Cranial ultrasound and chronological changes in molybdenum cofactor deficiency
作者:
Mercedes Serrano
;
Isabel Lizarraga
;
Jochen Reiss
;
Anna Paula Dias
;
Bel¨¦n P¨¦rez-Due?as
;
Maria Antonia Vilaseca
;
Rafael
Artuch
;
Jaume Campistol and Angels Garc¨ªa-Cazorla
关键词:
Molybdenum cofactor
;
Cranial US
;
MRI
;
Infant
刊名:Pediatric Radiology
出版年:2007
1
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