M. C. García-Jiménez

发表

Integrative Approach to Predict Severity in Nonketotic Hyperglycinemia

D. Zafeiriou, G. Horvath, G. Hoffmann, 2022, Annals of neurology.

Efficacy and safety of empagliflozin in glycogen storage disease type Ib: Data from an international questionnaire.

H. Mizumoto, S. Wortmann, S. Grünert, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Transition from pediatric care to adult care for patients with mucopolysaccharidosis

M. Couce, Á. Hermida-Ameijeiras, J. Pérez-López, 2018 .

Transition from paediatric care to adult care for patients with mucopolysaccharidosis.

M. Couce, Á. Hermida-Ameijeiras, M. del Toro, 2018, Revista clinica espanola.

Switching to Glycerol Phenylbutyrate in 48 Patients with Urea Cycle Disorders: Clinical Experience in Spain

P. Sánchez-Pintos, M. L. Couce, L. Peña-Quintana, 2022, Journal of clinical medicine.

Development and characterization of cell models harbouring mtDNA deletions for in vitro study of Pearson syndrome

E. Ruiz-Pesini, R. Artuch, J. Montoya, 2022, Disease models & mechanisms.

A study of epilepsy according to the age at onset and monitored for 3 years in a regional reference paediatric neurology unit

J. L. Peña-Segura, J. López-Pisón, C. L. Moros, 2017 .

Descriptive study of symptomatic epilepsy by age of onset in patients with a 3-year follow-up at the Neuropaediatric Department of a reference centre

J. L. Peña-Segura, J. López-Pisón, P. Samper-Villagrasa, 2017 .

[A study of epilepsy according to the age at onset and monitored for 3 years in a regional reference paediatric neurology unit].

J. L. Peña-Segura, J. López-Pisón, Carlos Lapresta Moros, 2017, Anales de pediatria.

Descriptive study of symptomatic epilepsy by age of onset in patients with a 3-year follow-up at the Neuropaediatric Department of a reference centre.

J. L. Peña-Segura, J. López-Pisón, P. Samper-Villagrasa, 2017, Neurologia.

GNAO1 encephalopathy: further delineation of a severe neurodevelopmental syndrome affecting females

E. Cuenca-León, A. Macaya, James A. R. Dalton, 2016, Orphanet Journal of Rare Diseases.

Quantification of urinary derivatives of Phenylbutyric and Benzoic acids by LC-MS/MS as treatment compliance biomarkers in Urea Cycle disorders.

E. Rodrigues, O. Villate, G. Pintos-Morell, 2019, Journal of pharmaceutical and biomedical analysis.

[Early infantile epileptic encephalopathy due to ITPA mutation].

S. Izquierdo-Álvarez, J. López-Pisón, M. C. García-Jiménez, 2020, Revista de neurologia.