E. Martín‐Hernández
发表
J. Arenas,
Miguel Ángel Martín,
M. García-Silva,
2005,
Pediatric Nephrology.
A. Ribes,
P. Briones,
M. García-Silva,
2010,
Journal of Inherited Metabolic Disease.
MLIP causes recessive myopathy with rhabdomyolysis, myalgia and baseline high serum creatine kinase.
B. Banwell,
L. Medne,
C. Bönnemann,
2021,
Brain : a journal of neurology.
C. Pérez-Cerdá,
E. Martín‐Hernández,
V. Pérez-Alonso,
2012,
JIMD reports.
F. Martínez-Azorín,
E. López‐Laso,
E. Martín‐Hernández,
2022,
Human mutation.
F. Martínez-Azorín,
M. Gómez-Cano,
E. Martín‐Hernández,
2020,
American journal of medical genetics. Part A.
I. T. de Almeida,
X. de la Cruz,
C. Riera,
2018,
Orphanet Journal of Rare Diseases.
F. Martínez-Azorín,
E. Martín‐Hernández,
M. Rodríguez-García,
2019,
European journal of human genetics : EJHG.
C. Pérez-Cerdá,
M. Martínez-Pardo,
M. Ugarte,
2019,
Clinical genetics.
J. Armstrong,
M. O'Callaghan,
M. Andrade-Campos,
2017,
Orphanet Journal of Rare Diseases.
C. Pérez-Cerdá,
B. Merinero,
M. Ugarte,
2019,
European Journal of Human Genetics.
J. Arenas,
Miguel Ángel Martín,
F. Martínez-Azorín,
2016,
neurogenetics.
J. Arenas,
Miguel Ángel Martín,
A. Delmiro,
2013,
Human mutation.
E. Martín‐Hernández,
C. García-Muñoz,
J. Ferrari-Piquero,
2022,
Medicina clinica.
C. Pérez-Cerdá,
B. Merinero,
M. Ugarte,
2019,
Journal of clinical medicine.
M. Ugarte,
Belén Pérez,
M. Martínez-Pardo Casanova,
2022,
JIMD reports.
M. Ugarte,
M. L. Couce,
R. Yahyaoui,
2022,
International journal of molecular sciences.
Urea cycle disorders in Spain: an observational, cross-sectional and multicentric study of 104 cases
C. Pérez-Cerdá,
M. Martínez-Pardo,
M. Couce,
2014,
Orphanet Journal of Rare Diseases.
M. Ugarte,
M. Martínez-Pardo Casanova,
Álvaro Martín-Rivada,
2022,
Journal of pediatric endocrinology & metabolism : JPEM.
C. Schaaf,
F. Martínez-Azorín,
Chun-An Chen,
2018,
Journal of Human Genetics.
M. Couce,
G. Pintos-Morell,
E. Guillén-Navarro,
2021,
Orphanet Journal of Rare Diseases.
Arantzazu Arrospide,
Pedro Serrano-Aguilar,
Stephen Morris,
2015,
Pediatrics.
B. Merinero,
L. Peña-Quintana,
J. Dalmau,
2015,
JIMD reports.
E. Ruiz-Pesini,
A. Ormazabal,
R. Artuch,
2014,
Orphanet Journal of Rare Diseases.
P. Sánchez-Pintos,
M. L. Couce,
L. Peña-Quintana,
2022,
Journal of clinical medicine.
M. Morales-Conejo,
C. Pedrón‐Giner,
M. García-Silva,
2022,
Nutrients.
F. Martínez,
R. González-Sarmiento,
J. Rosell,
2012,
The British journal of dermatology.
A. Camacho-Salas,
E. Martín‐Hernández,
N. Núñez-Enamorado,
2017,
Brain and Development.
S. Kalko,
K. Engelstad,
C. Paradas,
2019,
Annals of neurology.
F. Martínez-Azorín,
E. Martín‐Hernández,
2018,
Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society.
E. Ruiz-Pesini,
A. Ormazabal,
R. Artuch,
2010
.
A. Camacho-Salas,
M. García-Silva,
E. Martín‐Hernández,
2017,
Journal of Pediatric Neurology.
M. Ugarte,
M. Martínez-Pardo Casanova,
E. Martín‐Hernández,
2020,
Revista espanola de salud publica.
C. Pérez-Cerdá,
B. Merinero,
M. Ugarte,
2018,
JIMD reports.
F. Martínez-Azorín,
E. Martín‐Hernández,
M. Rodríguez-García,
2021,
Molecular genetics and metabolism.
M. Errami,
Miguel Ángel Martín,
M. Casado,
2018,
Scientific Reports.
J. Arenas,
A. Delmiro,
F. Martínez-Azorín,
2017,
Clinical genetics.
Robert W. Taylor,
W. Chung,
H. Prokisch,
2017,
Annals of neurology.
M. Ugarte,
B. Pérez,
C. Pedrón‐Giner,
2022,
Journal of clinical medicine.
E. Martín‐Hernández,
P. Quijada-Fraile,
Cristina Del Río,
2020,
Paediatric anaesthesia.
E. Ruiz-Pesini,
A. Ormazabal,
R. Artuch,
2011,
Mitochondrion.
Nancy T. Malintan,
J. Rothman,
D. Kullmann,
2019,
American journal of human genetics.
A. Lucia,
J. Arenas,
A. Santos-Lozano,
2016,
Clinical nutrition.
S. Grunewald,
P. Lee,
E. Martín‐Hernández,
2009,
Journal of Inherited Metabolic Disease.
A. Ribes,
P. Briones,
L. Gort,
2008,
Molecular genetics and metabolism.
J. Arenas,
Miguel Ángel Martín,
F. Martínez-Azorín,
2015,
neurogenetics.
A new mutation in the gene encoding mitochondrial seryl-tRNA synthetase as a cause of HUPRA syndrome
J. Arenas,
Miguel Ángel Martín,
A. Delmiro,
2013,
BMC Nephrology.
A. Singleton,
T. Rinne,
J. Christodoulou,
2018,
Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques.
C. Pérez-Cerdá,
B. Merinero,
M. Ugarte,
2006,
Journal of Inherited Metabolic Disease.
P. Sánchez-Pintos,
M. Couce,
F. Sánchez-Valverde,
2019,
Medicine.
C. Pérez-Cerdá,
B. Merinero,
M. Ugarte,
2019,
European Journal of Human Genetics.
F. Martínez-Azorín,
M. Morales-Conejo,
Elena Arranz-Canales,
2020,
Journal of Genetics.
B. Merinero,
A. Hernández-Laín,
E. Martín‐Hernández,
2017,
Journal of Inherited Metabolic Disease.
M. Errami,
Miguel Ángel Martín,
M. Casado,
2018,
Scientific Reports.
J. Arenas,
M. García-Silva,
Y. Campos,
2012,
Mitochondrion.