Á. García-Cazorla
发表
M. Baumgartner,
A. Gropman,
M. Yudkoff,
2019,
Annals of neurology.
Ich,
M. Baumgartner,
H. Blom,
2019
.
M. Verbeek,
N. Blau,
R. Artuch,
2017,
Orphanet Journal of Rare Diseases.
M. Baumgartner,
H. Blom,
L. Vilarinho,
2016,
Journal of Inherited Metabolic Disease.
Colin A. Ellis,
P. Striano,
F. Zara,
2021,
Brain : a journal of neurology.
J. Saudubray,
D. Martinelli,
C. Dionisi-Vici,
2022,
Trends in genetics : TIG.
D. Zafeiriou,
G. Horvath,
G. Hoffmann,
2022,
Annals of neurology.
M. Tuchman,
M. Baumgartner,
S. Waisbren,
2020,
Scientific Reports.
F. Villarroya,
S. Kalko,
E. Ruiz-Pesini,
2016,
PloS one.
M. Baumgartner,
N. Ah Mew,
S. Kölker,
2018,
Journal of inherited metabolic disease.
J. A. Arranz,
F. Tort,
A. Ribes,
2021,
Orphanet Journal of Rare Diseases.
F. Lamari,
F. Mochel,
J. Saudubray,
2019,
Journal of inherited metabolic disease.
P. Sánchez-Pintos,
M. L. Couce,
Á. García-Cazorla,
2022,
Frontiers in Pediatrics.
I. Nishino,
D. Shungu,
Á. García-Cazorla,
2009,
Human molecular genetics.
Robert W. Taylor,
A. Ballabio,
E. Bertini,
2020,
Journal of inherited metabolic disease.
M. Verbeek,
U. Engelke,
K. Coene,
2023
.
M. Verbeek,
U. Engelke,
K. Coene,
2022,
medRxiv.
M. Couce,
A. Chakrapani,
Á. García-Cazorla,
2016,
Orphanet Journal of Rare Diseases.
W. Dauer,
Á. García-Cazorla,
H. Akman,
2008,
Human molecular genetics.
D. Zafeiriou,
M. Verbeek,
H. Goez,
2021,
Nature Communications.
J. Zeman,
M. Couce,
A. Chakrapani,
2016,
Journal of Inherited Metabolic Disease.
J. Shendure,
B. O’Roak,
I. Glass,
2015,
Journal of Medical Genetics.
Colin A. Johnson,
E. Génin,
H. Mandel,
2006,
Human Genetics.
M. Couce,
Á. García-Cazorla,
A. Fernández-Marmiesse,
2015,
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.
M. Baumgartner,
S. Kölker,
R. Posset,
2018,
Journal of inherited metabolic disease.
M. Verbeek,
H. Goez,
J. Friedman,
2020,
Orphanet Journal of Rare Diseases.
M. Verbeek,
H. Goez,
J. Friedman,
2020,
Orphanet Journal of Rare Diseases.
A. Ribes,
M. Milá,
P. Briones,
2010,
European Journal of Human Genetics.
I. Harting,
D. Zafeiriou,
J. Friedman,
2021,
Journal of inherited metabolic disease.
Mitsuhiro Kato,
M. Kurian,
Á. García-Cazorla,
2020,
Journal of inherited metabolic disease.
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.
A. Ribes,
Á. García-Cazorla,
E. Fernández-Álvarez,
2003
.
D. Zafeiriou,
H. Goez,
J. Friedman,
2021,
Journal of inherited metabolic disease.
J. F. Alonso,
J. Armstrong,
M. Pineda,
2021,
Journal of intellectual disability research : JIDR.
Alejandro Bachiller,
Carolina Migliorelli,
Sergio Romero,
2021,
Entropy.
Mahshid S. Azamian,
S. Lalani,
R. Ghosh,
2019,
American journal of medical genetics. Part A.
A. Rotenberg,
M. Bertoldi,
E. Hanson,
2023,
Developmental medicine and child neurology.
A. Chakrapani,
Á. García-Cazorla,
M. Donati,
2018,
Orphanet Journal of Rare Diseases.
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. Ormazabal,
R. Artuch,
M. Dixon,
2023,
Brain : a journal of neurology.
M. Baumgartner,
H. Blom,
L. Vilarinho,
2016,
Journal of Inherited Metabolic Disease.