A. Bélanger-Quintana
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Y. Chien,
T. Coşkun,
K. Bhattacharya,
2019,
Molecular genetics and metabolism.
M. Martínez-Pardo,
M. Ugarte,
M. J. García,
2005,
Molecular genetics and metabolism.
N. Blau,
A. Macdonald,
M. Giovannini,
2009,
Molecular genetics and metabolism.
A. Macdonald,
J. Rocha,
E. van Dam,
2015,
Annals of Nutrition and Metabolism.
F. V. van Spronsen,
A. Bélanger-Quintana,
F. Spronsen,
2011,
JIMD reports.
A. Bélanger-Quintana,
V. Navarro-Abia,
A. Pedrera-Mazarro,
2015
.
A. Bélanger-Quintana,
V. Navarro-Abia,
A. Pedrera-Mazarro,
2015,
Anales de pediatria.
N. Blau,
S. Santra,
A. Macdonald,
2015,
Molecular genetics and metabolism.
A. Macdonald,
M. Nowacka,
K. Dokoupil,
2009,
Clinical nutrition.
E. Karabulut,
A. Macdonald,
A. Pinto,
2019,
Nutrients.
N. Blau,
S. Huijbregts,
A. Macdonald,
2017,
Orphanet Journal of Rare Diseases.
A. Macdonald,
J. Rocha,
K. Dokoupil,
2014,
Molecular genetics and metabolism reports.
A. Macdonald,
J. Rocha,
M. Rijn,
2013,
Molecular genetics and metabolism.
M. Martínez-Pardo,
M. del Valle,
P. Ruiz-Sala,
2022,
Amino Acids.
C. Pérez-Cerdá,
M. Couce,
A. Fernández-Marmiesse,
2016,
Journal of Human Genetics.
A. Macdonald,
J. Rocha,
M. Rijn,
2013,
Molecular genetics and metabolism.
F. Eyskens,
D. Cassiman,
F. de Boer,
2017,
Molecular genetics and metabolism reports.
M. Kabra,
S. Grünert,
J. Sass,
2020,
Molecular Genetics and Metabolism.
C. Harding,
A. Burlina,
A. Muntau,
2011,
Molecular genetics and metabolism.
M. Martínez-Pardo,
M. Ugarte,
B. Pérez,
2007,
Clinica chimica acta; international journal of clinical chemistry.
M. Martínez-Pardo,
M. Ugarte,
M. J. García,
2004,
Molecular genetics and metabolism.
N. Blau,
A. Macdonald,
M. Giovannini,
2010,
Molecular genetics and metabolism.
Belén Pérez,
P. Rodríguez-Pombo,
P. Ruiz-Sala,
2022,
Orphanet Journal of Rare Diseases.
V. Stoppioni,
J. Vockley,
B. Burton,
2020,
American journal of human genetics.
C. Gasteyger,
A. Burlina,
A. Macdonald,
2014,
European Journal of Pediatrics.
M. Martínez-Pardo,
A. Bélanger-Quintana,
M. Martínez‐Pardo,
2011,
Molecular genetics and metabolism.
A. Macdonald,
M. Nowacka,
M. Rijn,
2011,
European Journal of Clinical Nutrition.
C. Pérez-Cerdá,
B. Merinero,
M. Ugarte,
2019,
European Journal of Human Genetics.
A. Macdonald,
J. Rocha,
M. J. Pena,
2016,
European Journal of Clinical Nutrition.
F. Arrieta,
J. Botella-Carretero,
A. Bélanger-Quintana,
2021,
Nutrients.
C. Pérez-Cerdá,
B. Merinero,
M. Ugarte,
2019,
Journal of clinical medicine.
M. Ugarte,
Belén Pérez,
M. Martínez-Pardo Casanova,
2022,
JIMD reports.
A. Macdonald,
J. Rocha,
K. Dokoupil,
2011,
British Journal of Nutrition.
N. Blau,
S. Huijbregts,
A. Burlina,
2017,
The lancet. Diabetes & endocrinology.
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.
S. Christ,
M. Walterfang,
J. Vockley,
2022,
Molecular genetics and metabolism.
A. Bélanger-Quintana,
H. Escobar,
J. Benítez,
2001,
Journal of pediatric gastroenterology and nutrition.
M. Martínez-Pardo,
P. Ruiz-Sala,
A. Bélanger-Quintana,
2022,
Antioxidants.
M. Morales-Conejo,
C. Pedrón‐Giner,
M. García-Silva,
2022,
Nutrients.
F. Arrieta,
P. Ruiz-Sala,
A. Bélanger-Quintana,
2020
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N. Blau,
A. Macdonald,
M. Giovannini,
2010,
Pediatrics.
M. Martínez-Pardo,
M. Ugarte,
B. Wermuth,
2003,
European Journal of Pediatrics.
N. Blau,
S. Huijbregts,
A. Burlina,
2017,
The lancet. Diabetes & endocrinology.
N. Blau,
T. Coşkun,
A. Burlina,
2015,
European Journal of Pediatrics.
Novel NDUFA13 Mutations Associated with OXPHOS Deficiency and Leigh Syndrome: A Second Family Report
A. Lucia,
J. Arenas,
Miguel Ángel Martín,
2020,
Genes.
G. de Blas,
E. Lobo,
A. Bélanger-Quintana,
2000,
European Journal of Pediatrics.
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. Eyskens,
D. Cassiman,
F. de Boer,
2017,
Molecular genetics and metabolism reports.
M. Martínez-Pardo,
F. Arrieta,
A. Bélanger-Quintana,
2021,
Orphanet Journal of Rare Diseases.
M. Martínez-Pardo,
F. Arrieta,
A. Bélanger-Quintana,
2020
.
M. Langeveld,
T. Coşkun,
S. Huijbregts,
2021,
Molecular genetics and metabolism.
E. Bettiol,
N. Blau,
C. Gasteyger,
2013,
Molecular genetics and metabolism.
A. Bélanger-Quintana,
L. Suárez Cortina,
2000,
Journal of pediatric gastroenterology and nutrition.
A. Macdonald,
J. Rocha,
E. van Dam,
2019,
Journal of pediatric endocrinology & metabolism : JPEM.
Nenad Blau,
Roberto Cerone,
N. Blau,
2013,
Pediatrics.
F. Arrieta,
J. Botella-Carretero,
A. Bélanger-Quintana,
2021,
Nutrition.
C. Pérez-Cerdá,
B. Merinero,
M. Ugarte,
2006,
Journal of Inherited Metabolic Disease.
A. Macdonald,
J. Rocha,
M. J. Pena,
2015,
Orphanet Journal of Rare Diseases.
A. Macdonald,
J. Rocha,
K. Dokoupil,
2012,
Clinical nutrition.
P. Sánchez-Pintos,
M. Couce,
A. Cano,
2022,
European Journal of Clinical Nutrition.
T. Coşkun,
S. Huijbregts,
A. Macdonald,
2020,
Orphanet Journal of Rare Diseases.
F. Eyskens,
D. Cassiman,
A. Schlune,
2019,
Journal of pediatric endocrinology & metabolism : JPEM.
M. Martínez-Pardo Casanova,
A. Bélanger-Quintana,
F. Arrieta Blanco,
2020,
Case reports in pediatrics.
Aurora Martínez,
M. Ugarte,
R. Artuch,
2020,
Human mutation.
C. Pérez-Cerdá,
B. Merinero,
M. Ugarte,
2019,
European Journal of Human Genetics.
J. Hansen,
F. Rohr,
J. Rocha,
2021,
Nutrition and Dietary Supplements.
A. Macdonald,
F. Rohr,
J. Rocha,
2021,
Molecular genetics and metabolism reports.
A. Burlina,
F. Rutsch,
F. Trefz,
2015,
JIMD reports.
J. Grau,
F. Arrieta,
A. Bélanger-Quintana,
2020,
Endocrinología, Diabetes y Nutrición (English ed.).
J. Grau,
F. Arrieta,
A. Bélanger-Quintana,
2020,
Endocrinologia, diabetes y nutricion.
A. Munafo,
N. Blau,
O. Lichtenberger,
2015,
Molecular genetics and metabolism.
A. Macdonald,
J. Rocha,
K. Dokoupil,
2015,
Molecular genetics and metabolism reports.
P. Sánchez-Pintos,
M. Couce,
A. Cano,
2021,
Journal of clinical medicine.
P. Sánchez-Pintos,
M. Couce,
A. Cano,
2022,
European Journal of Clinical Nutrition.
N. Blau,
M. Couce,
S. Keil,
2013,
Pediatrics.
A. Munafo,
N. Blau,
O. Lichtenberger,
2015,
Molecular genetics and metabolism.
F. Eyskens,
D. Cassiman,
A. Schlune,
2017,
Molecular genetics and metabolism reports.
N. Blau,
A. Macdonald,
M. Giovannini,
2010,
Molecular genetics and metabolism.
A. Dursun,
S. Evans,
A. Pinto,
2024,
Nutrients.