A. Ribes
发表
B. Puisac,
M. Teresa-Rodrigo,
M. Arnedo,
2013,
Molecular genetics and metabolism.
A. Ribes,
J. Pié,
N. Casals,
1997,
Journal of lipid research.
B. Puisac,
M. Arnedo,
C. Pérez-Cerdá,
2009,
Human mutation.
A. Ribes,
L. Matalonga,
L. Gort,
2017,
Journal of Inherited Metabolic Disease.
J. Dopazo,
F. García-García,
S. Beltran,
2017,
Human mutation.
R. Carrozzo,
F. Tort,
A. Ribes,
2020,
Journal of inherited metabolic disease.
G. Jiménez-Sánchez,
A. Ribes,
P. Divry,
1997,
Clinica chimica acta; international journal of clinical chemistry.
M. Baumgartner,
H. Blom,
A. Ribes,
2018,
Journal of inherited metabolic disease.
M. Baumgartner,
H. Blom,
A. Ribes,
2018,
Journal of Inherited Metabolic Disease.
M. Baumgartner,
H. Blom,
A. Ribes,
2015,
Journal of Inherited Metabolic Disease.
A. Ribes,
M. Wajner,
B. Merinero,
2006,
Pediatric Research.
A. Ribes,
M. Castro‐Gago,
O. López-Suárez,
2013,
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.
F. Tort,
A. Ribes,
J. Montoya,
2012,
Molecular genetics and metabolism.
E. Richard,
A. Ribes,
B. Merinero,
2011,
Human mutation.
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. Ribes,
P. Briones,
M. García-Silva,
2010,
Journal of Inherited Metabolic Disease.
J. González,
G. Parra,
M. Gut,
2022,
The Journal of molecular diagnostics : JMD.
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,
J. García-Villoria,
Á. Arias,
2004,
Molecular genetics and metabolism.
A. Ribes,
J. García-Villoria,
Á. Arias,
2019,
Biomarkers in Disease: Methods, Discoveries and Applications.
A. Ribes,
A. Ormazabal,
R. Artuch,
2006,
Journal of Neuroscience Methods.
A. Ribes,
P. Briones,
J. García-Villoria,
2013,
Molecular genetics and metabolism.
A. Ribes,
B. Merinero,
F. Sanmartí,
2009,
Epilepsia.
A. Munnich,
C. Schwartz,
P. Pouwels,
2013,
Journal of Medical Genetics.
A. Ribes,
A. Zorzano,
J. Jiménez-Chillarón,
2014,
PloS one.
A. Ribes,
L. Matalonga,
L. Gort,
2014,
Journal of Inherited Metabolic Disease.
A. Ribes,
R. Artuch,
P. Briones,
2009,
Clinical biochemistry.
H. Freeze,
G. Matthijs,
A. Ribes,
2021,
American Journal of Human Genetics.
Y. Anikster,
A. Ribes,
E. Christensen,
1995,
American journal of human genetics.
Ellen,
Noel Southall,
R. Tamargo,
2012
.
I. Rivera,
H. Prokisch,
R. Rodenburg,
2015,
Journal of Inherited Metabolic Disease.
A. Ribes,
J. Marín,
R. M. López,
2016,
Seminars in pediatric neurology.
E. Richard,
C. Pérez-Cerdá,
A. Ribes,
2009,
Human mutation.
L. Bolund,
P. Bross,
T. Jensen,
1996,
Pediatric Research.
S. Seneca,
L. de Meirleir,
A. Ribes,
2013,
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.
A. V. van Kuilenburg,
L. Zoetekouw,
H. van Lenthe,
2004,
Human molecular genetics.
A. Ribes,
À. García‐Cazorla,
A. Capdevila,
2009,
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.
A. Ribes,
D. Millington,
E. Christensen,
1992,
The Journal of pediatrics.
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
.
D. Fitzpatrick,
A. Ribes,
D. Thorburn,
2003,
Human mutation.
A. Ribes,
L. Gort,
J. García-Villoria,
2021,
Clinical Biochemistry.
A. Ribes,
R. Artuch,
M. Couce,
2009,
Journal of Inherited Metabolic Disease.
A. Ribes,
A. Ormazabal,
R. Artuch,
2008,
Molecular genetics and metabolism.
A. Ribes,
P. Briones,
W. Sperl,
2009,
Journal of Inherited Metabolic Disease.
A. Ribes,
M. Milá,
P. Briones,
2011,
European Journal of Human Genetics.
J. A. Arranz,
F. Tort,
A. Ribes,
2021,
Orphanet Journal of Rare Diseases.
E. Gratacós,
A. Ribes,
M. Palacio,
2009,
American journal of obstetrics and gynecology.
F. Tort,
A. Ribes,
O. Ugarteburu,
2020,
Journal of clinical medicine.
F. Tort,
A. Ribes,
L. Gort,
2020,
Mitochondrion.
Robert W. Taylor,
J. A. Arranz,
F. Tort,
2016,
Mitochondrion (Amsterdam. Print).
F. Tort,
A. Ribes,
R. Artuch,
2014,
Human molecular genetics.
A. Ribes,
E. Ros,
M. Girós,
2015,
Journal of Lipid Research.
A. Drousiotou,
A. Ribes,
B. Merinero,
2016,
JIMD reports.
B. Andresen,
A. Ribes,
P. Sánchez-Pintos,
2011,
JIMD reports.
E. Richard,
C. Pérez-Cerdá,
A. Ribes,
2000,
European Journal of Human Genetics.
J. A. Arranz,
F. Tort,
A. Ribes,
2013,
Journal of Inherited Metabolic Disease.
A. Ribes,
P. Briones,
L. Gort,
2020
.
A. Ribes,
M. Lluch,
J. H. Osorio,
2003,
Journal of Inherited Metabolic Disease.
Vicente A. Yépez,
J. Gagneur,
H. Prokisch,
2022,
International journal of molecular sciences.
S. Seneca,
P. Navas,
A. Ribes,
2014,
Journal of Inherited Metabolic Disease.
P. Navas,
E. Ruiz-Pesini,
E. Trevisson,
2016,
Mitochondrion.
A. Ribes,
P. Briones,
J. García-Villoria,
2012,
Journal of chromatography. B, Analytical technologies in the biomedical and life sciences.
A. Ribes,
R. Artuch,
N. Darín,
2016,
Brain : a journal of neurology.
F. Tort,
A. Ribes,
O. Ugarteburu,
2016,
Pediatrics.
F. Tort,
A. Ribes,
X. Ferrer-Cortès,
2016,
Journal of Inherited Metabolic Disease.
W. Chung,
A. Ribes,
V. Iacobazzi,
2004,
Human mutation.
A. Ribes,
R. Artuch,
A. López-Sala,
2013,
Molecular genetics and metabolism.
R. Wanders,
A. Ribes,
P. Briones,
1996,
Pediatric neurology.
J. Suñé,
A. Ribes,
P. Briones,
1989,
Journal of Inherited Metabolic Disease.
B. Andresen,
A. Ribes,
N. Gregersen,
2003
.
B. Andresen,
A. Ribes,
N. Gregersen,
2003,
Molecular genetics and metabolism.
A. Ribes,
J. H. Osorio,
Montse Lluc,
2009
.
H. Eiberg,
A. Ribes,
S. Kmoch,
1997,
Pediatric Research.
A. Ribes,
R. Artuch,
M. Vilaseca,
1998,
Journal of Inherited Metabolic Disease.
A. Ribes,
B. Merinero,
E. Christensen,
2004,
Journal of Inherited Metabolic Disease.
A. Ribes,
E. Beutler,
T. Gelbart,
2001,
British journal of haematology.
E. Ruiz-Pesini,
A. Ribes,
J. Armstrong,
2018,
Journal of Inherited Metabolic Disease.
A. Ribes,
C. Greenberg,
S. Kölker,
2014,
Journal of Inherited Metabolic Disease.
A. Ribes,
F. Sanmartí,
M. Pineda,
2009,
Pediatric neurology.
A. Ribes,
P. Briones,
M. Vilaseca,
1989,
Journal of Inherited Metabolic Disease.
A. Ribes,
V. Iacobazzi,
F. Taroni,
2000
.
A. Ribes,
D. Millington,
E. Christensen,
1992,
Journal of Inherited Metabolic Disease.
J. I. Izpisúa Belmonte,
A. Ribes,
C. Ortiz Mellet,
2013,
Human molecular genetics.
Robert W. Taylor,
Vicente A. Yépez,
J. Gagneur,
2021,
Genome Medicine.
A. Ribes,
D. Grinberg,
L. Vilageliu,
2020,
Journal of clinical medicine.
Marta A. Uzarska,
J. A. Arranz,
F. Tort,
2011,
American journal of human genetics.
I. Gut,
B. Wirth,
F. Muntoni,
2020,
The Journal of molecular diagnostics : JMD.
Rafael Artuch,
Aida Ormazabal,
Francesc Palau,
2016,
PloS one.
P. Striano,
H. Prokisch,
Matteo P. Ferla,
2022,
Human mutation.
A. Ribes,
J. Arenas,
B. Garavaglia,
1997,
Pediatric neurology.
A. Ribes,
N. Casals,
D. Serra,
2018,
Molecular Neurobiology.
F. Sánchez-Jiménez,
A. Ribes,
L. Vilarinho,
2010,
Clinical genetics.
A. Ribes,
U. Bernardo,
G. Gibson,
2015,
Zoological journal of the Linnean Society.
L. Bolund,
P. Bross,
B. Andresen,
2008,
Human Genetics.
E. Lamantea,
A. Ribes,
A. Barceló,
1998,
European Journal of Pediatrics.
Vicente A. Yépez,
J. Gagneur,
H. Prokisch,
2022,
Brain pathology.
M. Orozco,
J. Gelpí,
A. Ribes,
2000,
Pediatric Research.
F. Tort,
A. Ribes,
2022,
Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases.
Robert W. Taylor,
Vicente A. Yépez,
J. Gagneur,
2021,
medRxiv.
Robert W. Taylor,
F. Tort,
L. Waddell,
2019,
Journal of inherited metabolic disease.
E. Schaftingen,
M. Veiga-da-Cunha,
L. Aagaard,
2021,
Journal of inherited metabolic disease.
A. Ribes,
L. Fusu,
2017
.
Jose L. Fernandez-Rueda,
Luis Antonio Castaño,
J. Dopazo,
2023,
Human Genomics.
A. Ribes,
M. Milá,
P. Briones,
2010,
European Journal of Human Genetics.
C. Pérez-Cerdá,
A. Ribes,
A. Messeguer,
2009,
Clinical biochemistry.
A. Ribes,
A. Urbaneja,
J. Arnó,
2014,
BioControl.
F. Tort,
A. Ribes,
M. Pineda,
2010,
Journal of Inherited Metabolic Disease.
A. Ribes,
J. Arenas,
P. Briones,
1994,
The Journal of pediatrics.
F. Tort,
A. Ribes,
W. Sperl,
2014,
Journal of Inherited Metabolic Disease.
F. Tort,
M. Marti,
A. Ribes,
2022,
Journal of clinical medicine.
H. Leffers,
M. Durán,
M. Schwartz,
1997,
Journal of Inherited Metabolic Disease.
Mutation analysis of the GCDH gene in Italian and Portuguese patients with glutaric aciduria type I.
I. Rivera,
I. T. de Almeida,
G. Uziel,
2000,
Molecular genetics and metabolism.
A. Ribes,
L. Stefanis,
R. Pons,
2015,
JIMD reports.
A. Ribes,
M. Pineda,
E. Christensen,
1998,
Developmental Medicine & Child Neurology.
A. Ribes,
B. Merinero,
M. Ugarte,
2000,
Prenatal Diagnosis.
Rafael Artuch,
Aida Ormazabal,
Keith Hyland,
2008,
Molecular genetics and metabolism.
A. Ribes,
E. Martins,
L. Diogo,
2013,
Orphanet Journal of Rare Diseases.
A. Ribes,
Á. García-Cazorla,
E. Fernández-Álvarez,
2003
.
A. Ribes,
A. Mahfoud,
C. Rizzo,
2004,
Revista de neurologia.
A. Ribes,
E. Christensen,
M. Vilaseca,
1998,
Journal of Inherited Metabolic Disease.
A. Ribes,
2011
.
F. Tort,
A. Ribes,
L. Matalonga,
2015,
Neurotherapeutics.
H. Eiberg,
A. Ribes,
S. Kmoch,
1997
.
Carlos Loucera,
Joaquín Dopazo,
Aurora Pujol,
2020,
Nucleic Acids Res..
A. Ribes,
M. Pineda,
G. Grimber,
1987,
Journal of Inherited Metabolic Disease.
M D Ugarte,
A Adin,
P. Navas,
2016,
Scientific Reports.
V. Volpini,
A. Ribes,
R. Artuch,
2006,
Journal of the Neurological Sciences.
A. Ribes,
P. Briones,
L. Gort,
2008,
Molecular genetics and metabolism.
E. Gratacós,
A. Ribes,
M. Palacio,
2009,
Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.
A. Ribes,
R. Artuch,
M. Pineda,
1998,
Revista de neurologia.
C. Pérez-Cerdá,
A. Ribes,
A. Verdú,
2007,
Pediatric neurology.
M. Zeviani,
F. Tort,
A. Ribes,
2020,
Molecular genetics and metabolism.
Joaquín Dopazo,
Frederic Tort,
Paz Briones,
2013,
Molecular genetics and metabolism.
F. Tort,
A. Ribes,
W. Lissens,
2011,
Clinical genetics.
S. Beltran,
F. Tort,
A. Ribes,
2019,
Human mutation.
A. Ribes,
R. Schutgens,
R. Wanders,
1996,
Annals of the New York Academy of Sciences.
Fausto G. Hegardt,
Antonia Ribes,
B. Puisac,
2010,
Journal of Inherited Metabolic Disease.
J. Yagüe,
A. Ribes,
M. Couce,
2012,
Pediatrics.
L. de Meirleir,
A. Ribes,
W. Lissens,
2010,
Clinical genetics.
M. Ferrer,
Noel Southall,
R. Tamargo,
2012,
Journal of medicinal chemistry.
A. Ribes,
I. Tavares de Almeida,
2022,
Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases.
T. Suormala,
A. Ribes,
P. Briones,
1990,
European Journal of Pediatrics.
A. Ribes,
P. Briones,
M. Vilaseca,
1984,
Journal of inherited metabolic disease.
A. Ribes,
C. Navarro,
M. Seijo-Martínez,
2005,
Archives of neurology.
A. Ribes,
C. Navarro,
M. Seijo-Martínez,
2005
.
J. A. Arranz,
F. Tort,
A. Ribes,
2020,
Molecular genetics and metabolism reports.
A. Ribes,
J. Barbosa,
V. Sanz-Nebot,
2003,
Journal of chromatography. B, Analytical technologies in the biomedical and life sciences.
Ronald J A Wanders,
Antonia Ribes,
Magdalena Ugarte,
2005,
Pediatric Research.
A. Ribes,
P. Briones,
A. Huckriede,
1997,
Journal of Inherited Metabolic Disease.
A. Ribes,
P. Briones,
B. Garavaglia,
1995,
Journal of Inherited Metabolic Disease.
M. Durán,
A. V. van Kuilenburg,
L. Zoetekouw,
2010,
Biochimica et Biophysica Acta.
A. Ribes,
2011
.
P. Soler-Palacín,
A. Ribes,
R. Colobran,
2019,
Front. Immunol..
P. Soler-Palacín,
A. Ribes,
R. Colobran,
2021,
International journal of neonatal screening.
A. V. van Kuilenburg,
R. Wevers,
A. Ribes,
2006,
Nucleosides, nucleotides & nucleic acids.
A. Ribes,
M. Boronat,
E. Riudor,
1986,
Journal of Inherited Metabolic Disease.
A. Ribes,
L. Pavone,
R. Barone,
1995,
Jornal de Pediatria.
A. Rötig,
A. Salvá,
A. Ribes,
1993,
Journal of Inherited Metabolic Disease.
D. Morton,
J. Esparza-Gordillo,
C. Pérez-Cerdá,
2001,
American journal of human genetics.
A. Ribes,
S. Duarte,
C. Ortez,
2011,
Journal of Alzheimer's disease : JAD.
F. Tort,
P. Navas,
E. Ruiz-Pesini,
2019,
Journal of clinical medicine.
F. Tort,
A. Ribes,
P. Briones,
2011,
JIMD reports.
V. Volpini,
A. Ribes,
R. Artuch,
2006
.
C. V. van Karnebeek,
A. Ribes,
S. Kölker,
2023,
Journal of inherited metabolic disease.
E. Holme,
A. Ribes,
C. Jakobs,
1991,
Journal of Inherited Metabolic Disease.
J. A. Arranz,
F. Tort,
A. Ribes,
2021,
Orphanet Journal of Rare Diseases.
J. A. Arranz,
F. Tort,
A. Ribes,
2023,
Orphanet Journal of Rare Diseases.
A. Ribes,
P. Briones,
M. Vilaseca,
1990,
Journal of Inherited Metabolic Disease.
A. Ribes,
M. Rolland,
M. Pineda,
1995,
Brain and Development.
F. Tort,
A. Ribes,
L. Gort,
2023,
International Journal of Molecular Sciences.
G. Rizzoni,
G. Federici,
A. Ribes,
1999,
Journal of Inherited Metabolic Disease.
A. Ribes,
2014
.
A. Ribes,
2014
.
A. Ribes,
2013
.
A. Planas,
A. Ribes,
E. Berra,
2010,
The Journal of Biological Chemistry.
A. Ribes,
J. M. Hernández-Pérez,
J. García-Villoria,
2013,
Clinical biochemistry.
A. Ribes,
L. Fusu,
R. Askew,
2018,
Zootaxa.
A. Ribes,
F. Sanmartí,
M. Pineda,
2009,
Pediatric neurology.
J. A. Arranz,
F. Tort,
A. Ribes,
2016,
Mitochondrion.
B. Puisac,
A. Ribes,
Á. Pié,
2009,
Human mutation.
A. Ribes,
M. Castro‐Gago,
S. Rodriguez-Segade,
1998,
Revista de neurologia.