I. Bravo-Alonso

发表

Mitochondrial bioenergetic is impaired in Monocarboxylate transporter 1 deficiency: a new clinical case and review of the literature

Belén Pérez, P. Rodríguez-Pombo, P. Ruiz-Sala, 2022, Orphanet Journal of Rare Diseases.

Genes and Variants Underlying Human Congenital Lactic Acidosis—From Genetics to Personalized Treatment

C. Pérez-Cerdá, B. Merinero, M. Ugarte, 2019, Journal of clinical medicine.

Generation and characterization of a human iPSC line (UAMi005-A) from a patient with nonketotic hyperglycinemia due to mutations in the GLDC gene.

E. Richard, C. Pérez-Cerdá, M. Ugarte, 2019, Stem cell research.

Generation and characterization of a human iPSC line (UAMi004-A) from a patient with propionic acidemia due to defects in the PCCB gene.

E. Richard, C. Pérez-Cerdá, M. Ugarte, 2019, Stem cell research.

Nonketotic hyperglycinemia: Functional assessment of missense variants in GLDC to understand phenotypes of the disease

C. Pérez-Cerdá, M. Ugarte, M. Couce, 2017, Human mutation.

The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT

G. Matthijs, C. Pérez-Cerdá, M. Ugarte, 2016, Genetics in Medicine.

Mitochondrial response to the BCKDK-deficiency: Some clues to understand the positive dietary response in this form of autism.

B. Merinero, M. Ugarte, R. Artuch, 2016, Biochimica et biophysica acta.

Pathogenic variants of the coenzyme A biosynthesis‐associated enzyme phosphopantothenoylcysteine decarboxylase cause autosomal‐recessive dilated cardiomyopathy

Mar Alvarez, M. Ugarte, J. Ariño, 2022, Journal of inherited metabolic disease.

Dataset reporting BCKDK interference in a BCAA-catabolism restricted environment

B. Merinero, M. Ugarte, R. Artuch, 2016, Data in brief.