R. Artuch
发表
S. Duarte,
J. Armstrong,
A. Roche,
2013,
PloS one.
E. Ruiz-Pesini,
R. Artuch,
M. Pineda,
2014,
Human molecular genetics.
J. Valls-Solé,
R. Artuch,
B. Pérez-Dueñas,
2005,
Journal of Neurology.
A. Roche,
R. Artuch,
À. García‐Cazorla,
2009,
American journal of kidney diseases : the official journal of the National Kidney Foundation.
R. Carrozzo,
F. Tort,
A. Ribes,
2020,
Journal of inherited metabolic disease.
A. Ormazabal,
R. Artuch,
À. García‐Cazorla,
2013,
Developmental medicine and child neurology.
B. Cormand,
A. Ormazabal,
R. Artuch,
2013,
Movement disorders : official journal of the Movement Disorder Society.
C. Pérez-Cerdá,
M. Ugarte,
R. Artuch,
2011,
Journal of Inherited Metabolic Disease.
R. Artuch,
M. Pineda,
J. Montoya,
2004,
Pediatric Research.
R. Artuch,
D. Yubero,
R. Montero,
2021,
Mitochondrial Diseases.
E. Monrós,
R. Artuch,
M. Pineda,
2002,
Neuropediatrics.
H. Colom,
D. Cuadras,
R. Artuch,
2021,
Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie.
I. Deary,
A. Gow,
S. Noble,
2010
.
E. Schaftingen,
G. Matthijs,
R. Artuch,
2003,
Journal of Inherited Metabolic Disease.
R. Artuch,
M. Pineda,
J. Montoya,
2004,
Revista de neurologia.
Eric N. Anderson,
Michael T. Zimmermann,
Nikita R. Dsouza,
2020,
Acta Neuropathologica.
E. Richard,
A. Ribes,
B. Merinero,
2011,
Human mutation.
R. Artuch,
P. Briones,
M. Vilaseca,
2004
.
A. Ribes,
B. Merinero,
R. Artuch,
2009,
Journal of Inherited Metabolic Disease.
A. Ribes,
B. Merinero,
R. Artuch,
2010,
Journal of Inherited Metabolic Disease.
A. Ribes,
A. Ormazabal,
R. Artuch,
2007,
Clinical biochemistry.
A. Ormazabal,
R. Artuch,
À. García‐Cazorla,
2014,
Electrophoresis.
E. Salido,
M. Dierssen,
B. Ibáñez,
2020,
Frontiers in Genetics.
B. Cormand,
F. Sanmartí,
A. Ormazabal,
2010,
Journal of Inherited Metabolic Disease.
M. Verbeek,
N. Blau,
R. Artuch,
2017,
Orphanet Journal of Rare Diseases.
R. Artuch,
J. Montoya,
E. López-Gallardo,
2016,
Mitochondrion.
J. González,
G. Parra,
M. Gut,
2022,
The Journal of molecular diagnostics : JMD.
R. Artuch,
A. Mas,
B. Pérez-Dueñas,
2005,
Molecular genetics and metabolism.
S. Rahman,
A. Ormazabal,
R. Artuch,
2015,
Drug discovery today.
A. Ribes,
R. Artuch,
M. Pineda,
2010,
Molecular genetics and metabolism.
A. Ribes,
R. Artuch,
M. Pineda,
2008,
Journal of Inherited Metabolic Disease.
A. Ribes,
R. Artuch,
P. Póo-Argüelles,
2006,
Journal of Inherited Metabolic Disease.
A. Ribes,
A. Ormazabal,
R. Artuch,
2006,
Journal of Neuroscience Methods.
J. Armstrong,
A. Ormazabal,
R. Artuch,
2012,
JIMD reports.
A. Ribes,
B. Merinero,
F. Sanmartí,
2009,
Epilepsia.
Modesta Pousada,
Beni Gómez-Zúñiga,
R. Artuch,
2012,
Orphanet Journal of Rare Diseases.
J. López-Barneo,
I. Velasco,
A. Giorgetti,
2017,
Stem cells.
A. Ormazabal,
R. Artuch,
M. Molero-Luis,
2016,
Seminars in pediatric neurology.
J. Obeso,
C. Depienne,
R. Artuch,
2012,
Movement disorders : official journal of the Movement Disorder Society.
Folate Receptor Autoantibodies and Spinal Fluid 5-Methyltetrahydrofolate Deficiency in Rett Syndrome
N. Blau,
V. Ramaekers,
A. Ormazabal,
2007,
Neuropediatrics.
A. Ribes,
R. Artuch,
P. Briones,
2009,
Clinical biochemistry.
R. Artuch,
B. Pérez-Dueñas,
M. Vilaseca,
2005,
Clinical biochemistry.
C. Pérez-Cerdá,
R. Artuch,
P. Ruiz-Sala,
2017
.
A. Ormazabal,
R. Artuch,
B. Pérez-Dueñas,
2014,
Analytical and Bioanalytical Chemistry.
K. Anagnostopoulou,
F. Santorelli,
R. Artuch,
2019,
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.
D. Cuadras,
A. Ormazabal,
R. Artuch,
2019,
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.
M. O'Callaghan,
R. Artuch,
M. Pineda,
2011,
Journal of Inherited Metabolic Disease.
B. Cormand,
Wiley Online Library,
J. Armstrong,
2022
.
R. Artuch,
P. Mir,
J. Hernández-Vara,
2021,
Parkinsonism & related disorders.
R. Saunders-Pullman,
R. Artuch,
E. López‐Laso,
2012,
Pediatric neurology.
P. Navas,
R. Artuch,
L. Salviati,
2018,
Expert review of molecular diagnostics.
P. Navas,
R. Artuch,
I. Hargreaves,
2015,
BioFactors.
R. Artuch,
S. Heales,
I. Hargreaves,
2014,
Molecular Syndromology.
A. Consiglio,
Á. Raya,
F. Artigas,
2022,
bioRxiv.
J. Armstrong,
A. Ormazabal,
R. Artuch,
2017,
Movement disorders : official journal of the Movement Disorder Society.
R. Artuch,
M. Pineda,
M. Vilaseca,
1998,
Journal of Inherited Metabolic Disease.
E. Ruiz-Pesini,
R. Artuch,
M. Bayona-Bafaluy,
2019,
Molecular genetics and metabolism.
A. Ormazabal,
R. Artuch,
E. López‐Laso,
2009,
Journal of Neurology.
A. Ormazabal,
R. Artuch,
M. Vilaseca,
2006,
Clinical biochemistry.
M. O'Callaghan,
R. Artuch,
À. García‐Cazorla,
2015,
Expert review of neurotherapeutics.
E. Tolosa,
F. Valldeoriola,
E. Muñoz,
2020,
Antioxidants.
R. Artuch,
À. García‐Cazorla,
B. Pérez-Dueñas,
2010,
Clinical genetics.
N. Blau,
V. Ramaekers,
A. Ormazabal,
2008,
Neurology.
F. Villarroya,
S. Kalko,
E. Ruiz-Pesini,
2020,
Scientific Reports.
P. Navas,
R. Artuch,
M. Pineda,
2008,
The Cerebellum.
P. Navas,
E. Trevisson,
R. Artuch,
2008,
Clinical biochemistry.
N. Blau,
R. Artuch,
À. García‐Cazorla,
2020,
Journal of inherited metabolic disease.
S. Duarte,
C. Ortez,
Ana Pérez,
2011,
Journal of Inherited Metabolic Disease.
A. Ormazabal,
R. Artuch,
M. Casado,
2018,
Metabolomics.
G. Marfany,
Pedro Seoane,
E. Rojano,
2022,
Journal of Medical Genetics.
A. Ormazabal,
R. Artuch,
À. García‐Cazorla,
2012,
JIMD reports.
R. Artuch,
M. Kurian,
M. I. Vanegas,
2018,
Orphanet Journal of Rare Diseases.
J. Pujol,
C. Soriano-Mas,
H. Ortiz,
2006,
Neurology.
S. Duarte,
F. Sanmartí,
A. Ormazabal,
2008,
Brain and Development.
R. de Cabo,
G. López-Lluch,
A. Ribes,
2022,
Frontiers in Physiology.
R. de Cabo,
M. Aon,
G. López-Lluch,
2019,
Journal of clinical medicine.
M. Aon,
G. López-Lluch,
P. Navas,
2019
.
R. Artuch,
À. García‐Cazorla,
M. Vilaseca,
2006,
Journal of Inherited Metabolic Disease.
R. Artuch,
D. Yubero,
R. Montero,
2017,
Journal of clinical medicine.
F. Villarroya,
S. Kalko,
E. Ruiz-Pesini,
2016,
PloS one.
R. Artuch,
P. Briones,
M. Vilaseca,
2009,
Journal of chromatography. B, Analytical technologies in the biomedical and life sciences.
R. Artuch,
M. Vilaseca,
C. Valls,
2001
.
R. Artuch,
J. Pascual,
J. Campistol,
2014,
Pediatric Neurology.
A. Ribes,
R. Artuch,
M. Couce,
2009,
Journal of Inherited Metabolic Disease.
R. Artuch,
M. Vilaseca,
D. Moyano,
1998,
European Journal of Clinical Nutrition.
A. Ribes,
A. Ormazabal,
R. Artuch,
2008,
Molecular genetics and metabolism.
R. Artuch,
À. García‐Cazorla,
À. García-Cazorla,
2020,
Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease.
R. Artuch,
À. García‐Cazorla,
À. García-Cazorla,
2015
.
B. Cormand,
M. Ribasés,
A. Ormazabal,
2007,
Molecular genetics and metabolism.
R. Artuch,
G. Ruijter,
J. García-Villoria,
2022,
Antioxidants.
R. Artuch,
L. Salviati,
2022,
Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases.
R. Artuch,
M. Vilaseca,
C. Farré,
1995,
European journal of clinical chemistry and clinical biochemistry : journal of the Forum of European Clinical Chemistry Societies.
E. Schaftingen,
R. Artuch,
M. Pineda,
2000,
Developmental medicine and child neurology.
R. Artuch,
M. Vilaseca,
J. Campistol,
2001,
Clinical biochemistry.
P. Navas,
R. Artuch,
C. Santos-Ocaña,
2020,
Antioxidants.
J. A. Arranz,
F. Tort,
A. Ribes,
2021,
Orphanet Journal of Rare Diseases.
R. Artuch,
R. Estévez,
Héctor Gaitán-Peñas,
2019,
The Journal of physiology.
M. Palacín,
A. Zorzano,
A. Ormazabal,
2018,
Journal of the American Society of Nephrology : JASN.
R. Artuch,
M. Vilaseca,
J. Campistol,
2011,
Developmental Medicine & Child Neurology.
R. Artuch,
M. Vilaseca,
J. Campistol,
2002,
Clinical biochemistry.
R. Artuch,
M. Vilaseca,
J. Campistol,
2003,
European Journal of Clinical Nutrition.
R. Artuch,
M. Vilaseca,
J. Campistol,
2003
.
R. Artuch,
A. Riva,
G. Petrangolini,
2020
.
R. Artuch,
M. Vilaseca,
J. Campistol,
2010,
Nutricion hospitalaria.
A. V. van Kuilenburg,
R. Hennekam,
R. Artuch,
2019,
JIMD reports.
À. Bayés,
R. Artuch,
À. García‐Cazorla,
2016,
Seminars in pediatric neurology.
R. Artuch,
C. Farré,
F. Ramon,
1995
.
R. Artuch,
J. Campistol,
R. Gassió,
2016,
Seminars in pediatric neurology.
C. Pérez-Cerdá,
B. Merinero,
M. Ugarte,
2011,
neurogenetics.
R. Artuch,
M. Vilaseca,
J. Campistol,
2010,
Clinical Biochemistry.
A. Ormazabal,
R. Artuch,
B. Pérez-Dueñas,
2005,
Journal of Inherited Metabolic Disease.
E. Ruiz-Pesini,
R. Artuch,
M. Bayona-Bafaluy,
2020,
Genes.
F. Tort,
A. Ribes,
R. Artuch,
2014,
Human molecular genetics.
R. Artuch,
J. Montoya,
E. López-Gallardo,
2013,
Mitochondrion.
A. Ormazabal,
R. Artuch,
M. Pineda,
2006,
Annals of neurology.
P. Navas,
R. Artuch,
M. Pineda,
2005,
BioFactors.
R. Artuch,
M. Pineda,
J. Montoya,
2000,
Clinical biochemistry.
R. Artuch,
M. Pineda,
J. Montoya,
1998,
Hormone Research in Paediatrics.
N. Blau,
A. Ormazabal,
R. Artuch,
2005,
Prenatal diagnosis.
P. Navas,
E. Ruiz-Pesini,
M. O'Callaghan,
2015,
European Journal of Human Genetics.
R. Artuch,
M. Pineda,
M. Vilaseca,
1999,
Revista de neurologia.
V. Pertegato,
S. Dimauro,
P. Navas,
2012,
Journal of Medical Genetics.
R. Artuch,
M. Pineda,
P. Briones,
2000,
Clinical chemistry and laboratory medicine.
R. Artuch,
C. Muñoz-Almagro,
M. Vilaseca,
2003,
European Journal of Clinical Nutrition.
Julieta,
R. Artuch,
J. Campistol,
2016
.
A. Ormazabal,
R. Artuch,
M. Pineda,
2011,
Clinical biochemistry.
J. Alda,
A. Ormazabal,
R. Artuch,
2005,
Journal of pediatric gastroenterology and nutrition.
S. Nevsimalova,
R. Artuch,
A. Arzimanoglou,
2012,
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.
E. Ruiz-Pesini,
C. Ortez,
R. Artuch,
2022,
International journal of molecular sciences.
Á. Carracedo,
L. Pérez-Jurado,
P. Lapunzina,
2022,
Clinical genetics.
P. Navas,
B. Bornstein,
R. Artuch,
2009,
Clinical biochemistry.
P. Navas,
R. Artuch,
L. Salviati,
2009,
Advances in experimental medicine and biology.
A. Ormazabal,
R. Artuch,
M. Molero-Luis,
2017
.
R. Artuch,
P. Briones,
M. Vilaseca,
2003,
Journal of Neuroscience Methods.
S. Seneca,
P. Navas,
A. Ribes,
2014,
Journal of Inherited Metabolic Disease.
P. Navas,
E. Ruiz-Pesini,
E. Trevisson,
2016,
Mitochondrion.
A. Ribes,
R. Artuch,
N. Darín,
2016,
Brain : a journal of neurology.
Hyperlactatemia in human immunodeficiency virus-infected children receiving antiretroviral treatment
R. Artuch,
C. Muñoz-Almagro,
J. Pou,
2003,
The Pediatric infectious disease journal.
R. Artuch,
X. Setoain,
B. Pérez-Dueñas,
2009,
Archives of neurology.
L. Puelles,
R. Artuch,
M. Martı́nez-de-la-Torre,
2012,
Brain Structure and Function.
A. Green,
D. Bonthron,
E. Bertini,
2007,
American journal of human genetics.
A. Ribes,
R. Artuch,
A. López-Sala,
2013,
Molecular genetics and metabolism.
A. Ormazabal,
R. Artuch,
B. Pérez-Dueñas,
2008,
Clinical biochemistry.
J. Reiss,
R. Artuch,
B. Pérez-Dueñas,
2007,
Pediatric Radiology.
P. Lapunzina,
J. Nevado,
J. Armstrong,
2013,
Scientific Reports.
R. Artuch,
B. Pérez-Dueñas,
J. Muchart,
2014,
Orphanet Journal of Rare Diseases.
A. Ribes,
R. Artuch,
M. Vilaseca,
1998,
Journal of Inherited Metabolic Disease.
R. Artuch,
M. Pineda,
J. Pou,
2000,
Pediatric emergency care.
Robert W. Taylor,
A. Ballabio,
E. Bertini,
2020,
Journal of inherited metabolic disease.
Robert W. Taylor,
R. Artuch,
N. Darín,
2017,
Annals of neurology.
R. Artuch,
B. Pérez-Dueñas,
J. Muchart,
2013,
Pediatrics.
R. Artuch,
B. Pérez-Dueñas,
L. Martí-Sánchez,
2016,
Expert review of neurotherapeutics.
Joaquín Dopazo,
Rosa Navarrete,
Anna López-Sala,
2014,
Human mutation.
Joaquín Dopazo,
Joana,
Rafael Artuch,
2014
.
S. Rahman,
R. Artuch,
S. Heales,
2019,
Journal of inherited metabolic disease.
E. Ruiz-Pesini,
A. Ribes,
J. Armstrong,
2018,
Journal of Inherited Metabolic Disease.
A. Ormazabal,
R. Artuch,
M. Pineda,
2005,
Neuropediatrics.
E. Ruiz-Pesini,
A. Ormazabal,
R. Artuch,
2014,
Orphanet Journal of Rare Diseases.
R. Artuch,
M. Molero-Luis,
E. Cortès-Saladelafont,
2016,
Seminars in pediatric neurology.
J. Armstrong,
A. Ormazabal,
R. Artuch,
2015,
Orphanet Journal of Rare Diseases.
A. Ormazabal,
R. Artuch,
E. Fernández-Álvarez,
2005,
Journal of Neuroscience Methods.
B. Cormand,
M. Ribasés,
E. Kanavakis,
2010,
Movement disorders : official journal of the Movement Disorder Society.
M. Verbeek,
U. Engelke,
K. Coene,
2023
.
M. Verbeek,
U. Engelke,
K. Coene,
2022,
medRxiv.
F. Albericio,
M. Palacín,
A. Zorzano,
2007,
Diabetes.
R. Artuch,
C. Muñoz-Almagro,
J. Pou,
2004,
Pediatrics.
A. Ormazabal,
R. Artuch,
J. Montoya,
2012,
Drug discovery today.
C. Pérez-Cerdá,
M. Ugarte,
M. Palacín,
2013,
Molecular genetics and metabolism.
E. Ruiz-Pesini,
R. Artuch,
Miguel Ángel Martín,
2021,
Genes.
F. Villarroya,
S. Kalko,
E. Ruiz-Pesini,
2020,
Scientific Reports.
L. de Meirleir,
S. Kalko,
E. Ruiz-Pesini,
2014,
BMC Genomics.
R. Artuch,
C. Muñoz-Almagro,
C. Fortuny,
2013
.
E. Tolosa,
M. Marti,
R. Artuch,
2018,
Neurobiology of Aging.
B. Cormand,
A. Ormazabal,
R. Artuch,
2011,
Archives of neurology.
E. Ruiz-Pesini,
A. Ormazabal,
R. Artuch,
2010
.
A. Ormazabal,
R. Artuch,
M. Pineda,
2006,
Clinica chimica acta; international journal of clinical chemistry.
M. Zeviani,
H. Prokisch,
M. Mancuso,
2017,
Neuromuscular Disorders.
J. A. Arranz,
R. Artuch,
P. Briones,
2010,
Journal of child neurology.
R. Artuch,
J. Campistol,
À. García Cazorla,
2016,
Developmental medicine and child neurology.
R. Artuch,
I. Marín-Valencia,
M. Vilaseca,
2010,
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.
I. Ferrer,
J. Lucas,
J. López-Sendón,
2021,
Science Translational Medicine.
E. Ruiz-Pesini,
R. Artuch,
J. Montoya,
2022,
Disease models & mechanisms.
M. P. Sperandeo,
M. Palacín,
A. Zorzano,
2019,
International journal of molecular sciences.
I. Gut,
B. Wirth,
F. Muntoni,
2020,
The Journal of molecular diagnostics : JMD.
Rafael Artuch,
Aida Ormazabal,
Francesc Palau,
2016,
PloS one.
S. Duarte,
C. Ortez,
A. Ormazabal,
2015,
Molecular genetics and metabolism.
F. Sánchez-Jiménez,
A. Ribes,
L. Vilarinho,
2010,
Clinical genetics.
A. Ormazabal,
R. Artuch,
J. Rosell-Ferrer,
2022,
Analytica chimica acta.
R. Artuch,
C. Launes,
C. Muñoz-Almagro,
2019,
Pediatric neurology.
J. Armstrong,
A. Ormazabal,
R. Artuch,
2019,
Scientific Reports.
R. Artuch,
M. Pineda,
A. Capdevila,
2011,
The Cerebellum.
R. Artuch,
R. Urreizti,
D. Yubero,
2023,
Critical reviews in clinical laboratory sciences.
R. Artuch,
M. Vilaseca,
J. Campistol,
2008,
Neuropsychology.
M. Palacín,
A. Zorzano,
A. Ormazabal,
2021,
bioRxiv.
R. Artuch,
J. Colomer,
C. Espinós,
2012,
JIMD Reports.
Vicente A. Yépez,
J. Gagneur,
H. Prokisch,
2022,
Brain pathology.
A. Ormazabal,
R. Artuch,
M. Pineda,
2007,
Developmental Medicine & Child Neurology.
B. Cormand,
R. Artuch,
B. Pérez-Dueñas,
2011
.
M. Verbeek,
H. Goez,
J. Friedman,
2020,
Orphanet Journal of Rare Diseases.
M. Verbeek,
H. Goez,
J. Friedman,
2020,
Orphanet Journal of Rare Diseases.
Robert W. Taylor,
F. Tort,
L. Waddell,
2019,
Journal of inherited metabolic disease.
R. Artuch,
M. Pineda,
J. Arpa,
2008,
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.
B. Cormand,
M. Ribasés,
A. Ormazabal,
2006,
Medicina clinica.
D. Cuadras,
C. Pérez-Cerdá,
R. Artuch,
2018,
International journal of molecular sciences.
A. Ormazabal,
R. Artuch,
L. Martí-Sánchez,
2019,
Fluids and Barriers of the CNS.
A. Ormazabal,
R. Artuch,
I. Jordan,
2013,
PloS one.
D. Cuadras,
A. Ormazabal,
R. Artuch,
2020,
Scientific Reports.
Jose L. Fernandez-Rueda,
Luis Antonio Castaño,
J. Dopazo,
2023,
Human Genomics.
V. Tillmann,
D. Jacqmin,
S. Bernasconi,
1998,
Hormone Research in Paediatrics.
S. Dimauro,
R. de Cabo,
P. Navas,
2013,
BMJ Open.
Rafael Artuch,
Jaume Campistol,
R. Artuch,
2004,
Clinical biochemistry.
P. Rizzu,
A. Ormazabal,
R. Artuch,
2012,
Brain and Development.
A. Ormazabal,
R. Artuch,
M. Casado,
2018,
Metabolomics.
G. Matthijs,
C. Pérez-Cerdá,
M. Ugarte,
2011,
JIMD reports.
Long-term evolution of eight Spanish patients with CDG type Ia: typical and atypical manifestations.
G. Matthijs,
C. Pérez-Cerdá,
R. Artuch,
2009,
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.
E. Monrós,
R. Artuch,
M. Pineda,
2000,
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.
E. Ruiz-Pesini,
R. Artuch,
M. Pineda,
2015,
Mitochondrion.
R. Artuch,
M. Vilaseca,
J. Campistol,
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