Publicaciones
-
Valayannopoulos V, Baruteau J, Delgado MB, Cano A, Couce ML, Del Toro M, Donati MA, Garcia-Cazorla A, Gil-Ortega D, Gomez-de Quero P, Guffon N, Hofstede FC, Kalkan-Ucar S, Coker M, Lama-More R, Martinez-Pardo Casanova M, Molina A, Pichard S, Papadia F, Rosello P, Plisson C, Le Mouhaer J and Chakrapani A.
Carglumic acid enhances rapid ammonia detoxification in classical organic acidurias with a favourable risk-benefit profile: a retrospective observational study.
ORPHANET JOURNAL OF RARE DISEASES . 11: 32-32. Nº de citas: 32
-
Asencio C, Rodríguez-Hernandez MA, Briones P, Montoya J, Cortés A, Emperador S, Gavilán A, Ruiz-Pesini E, Yubero-Siles D, Montero-Sanchez R, Pineda M, O'Callaghan-Gordo M, Alcázar-Fabra M, Salviati L, Artuch-Iriberri R and Navas P.
Severe encephalopathy associated to pyruvate dehydrogenase mutations and unbalanced coenzyme Q10 content
EUROPEAN JOURNAL OF HUMAN GENETICS . 24(3): 367-372. Nº de citas: 15
-
Jamiolkowski D, Kölker S, Glahn EM, Baric I, Zeman J, Baumgartner MR, Mühlhausen C, Garcia-Cazorla A, Gleich F, Haege G, Burgard P and E-IMD consortium.
Behavioural and emotional problems, intellectual impairment and health-related quality of life in patients with organic acidurias and urea cycle disorders.
JOURNAL OF INHERITED METABOLIC DISEASE . 39(2): 231-241. Nº de citas: 30
-
Montero-Sanchez R, Yubero-Siles D, Villarroya-Terrade J, Henares-Bonilla D, Jou-Munoz C, Rodríguez-García MA, Ramos F, Nascimento-Osorio A, Ortez-Gonzalez CI, Campistol-Plana J, Pérez-Dueñas B, O'Callaghan-Gordo M, Pineda M, Garcia-Cazorla A, Colomer J, Montoya J, Ruiz-Pesini E, Emperador S, Meznaric M, Campderros L, Kalko SG, Villarroya-Gombau F, Artuch-Iriberri R and Jimenez-Mallebrera C.
GDF-15 Is Elevated in Children with Mitochondrial Diseases and Is Induced by Mitochondrial Dysfunction
PLoS One . 11(2): . Nº de citas: 127
-
Serrano M, Vilaseca MA and Pérez-Payarols J.
Isotretinoin, Trimethylaminuria and the internet
Journal of Rare Disorders: Diagnosis &Therapy . 2(1): 1-2.
-
Ortigoza-Escobar JD, Molero M, Arias, A, Marti-Sanchez L, Rodriguez-Pombo, P, Artuch-Iriberri R and Pérez-Dueñas B.
Treatment of genetic defects of thiamine transport and metabolism
EXPERT REVIEW OF NEUROTHERAPEUTICS . 16(7): 755-763. Nº de citas: 30
-
Ferrer-Cortès X, Narbona J, Bujan N, Matalonga L, Del Toro M, Arranz JA, Riudor E, Garcia-Cazorla A, Jou-Munoz C, O'Callaghan-Gordo M, Pineda M, Montero-Sanchez R, Arias A, García-Villoria J, Alston CL, Taylor RW, Briones P, Ribes A and Tort F.
A leaky splicing mutation in NFU1 is associated with a particular biochemical phenotype. Consequences for the diagnosis
Mitochondrion . 26: 72-80. Nº de citas: 19
-
Ortigoza-Escobar JD, Molero M, Arias A, De Oyarzabal-Sanz AL, Darín N, Serrano M, Garcia-Cazorla A, Tondo M, Hernández M, Garcia-Villoria J, Casado-Rio M, Gort L, Mayr JA, Rodríguez-Pombo P, Ribes A, Artuch-Iriberri R and Pérez-Dueñas B.
Free-thiamine is a potential biomarker of thiamine transporter-2 deficiency: a treatable cause of Leigh syndrome
BRAIN . 139: 31-38. Nº de citas: 50
-
Pineda M, O'Callaghan-Gordo M, Fernandez Lopez A, Coll MJ, Rosendo Ullot Font and García-Fructuoso G.
Clinical Evolution After Enzyme Replacement Therapy in Twins with the Severe Form of Maroteaux-Lamy Syndrome
JIMD Reports . 30: 6-14. Nº de citas: 1
-
Bosch de Basea M, Salotti JA, Pearce MS, Muchart-Lopez J, Riera L, Barber I, Pedraza S, Pardina M, Capdevila A, Espinosa A and Cardis E.
Trends and patterns in the use of computed tomography in children and young adults in Catalonia - results from the EPI-CT study
PEDIATRIC RADIOLOGY . 46(1): 119-129. Nº de citas: 41