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Genes and Variants Underlying Human Congenital Lactic Acidosis—From Genetics to Personalized Treatment.
Published in:
Journal of Clinical Medicine, 2019, v. 8, n. 11, p. 1811, doi. 10.3390/jcm8111811
By:
- Bravo-Alonso, Irene;
- Navarrete, Rosa;
- Vega, Ana Isabel;
- Ruíz-Sala, Pedro;
- García Silva, María Teresa;
- Martín-Hernández, Elena;
- Quijada-Fraile, Pilar;
- Belanger-Quintana, Amaya;
- Stanescu, Sinziana;
- Bueno, María;
- Vitoria, Isidro;
- Toledo, Laura;
- Couce, María Luz;
- García-Jiménez, Inmaculada;
- Ramos-Ruiz, Ricardo;
- Martín, Miguel Ángel;
- Desviat, Lourdes R.;
- Ugarte, Magdalena;
- Pérez-Cerdá, Celia;
- Merinero, Begoña
Publication type:
Article
Mitochondrial bioenergetic is impaired in Monocarboxylate transporter 1 deficiency: a new clinical case and review of the literature.
Published in:
2022
By:
- Stanescu, Sinziana;
- Bravo-Alonso, Irene;
- Belanger-Quintana, Amaya;
- Pérez, Belen;
- Medina-Diaz, Montserrat;
- Ruiz-Sala, Pedro;
- Flores, Nathaly Paola;
- Buenache, Raquel;
- Arrieta, Francisco;
- Rodríguez-Pombo, Pilar
Publication type:
journal article
Pathogenic variants of the coenzyme A biosynthesis‐associated enzyme phosphopantothenoylcysteine decarboxylase cause autosomal‐recessive dilated cardiomyopathy.
Published in:
Journal of Inherited Metabolic Disease, 2023, v. 46, n. 2, p. 261, doi. 10.1002/jimd.12584
By:
- Bravo‐Alonso, Irene;
- Morin, Matías;
- Arribas‐Carreira, Laura;
- Álvarez, Mar;
- Pedrón‐Giner, Consuelo;
- Soletto, Lucia;
- Santolaria, Carlos;
- Ramón‐Maiques, Santiago;
- Ugarte, Magdalena;
- Rodríguez‐Pombo, Pilar;
- Ariño, Joaquín;
- Moreno‐Pelayo, Miguel Ángel;
- Pérez, Belén
Publication type:
Article
Nonketotic hyperglycinemia: Functional assessment of missense variants in GLDC to understand phenotypes of the disease.
Published in:
Human Mutation, 2017, v. 38, n. 6, p. 678, doi. 10.1002/humu.23208
By:
- Bravo‐Alonso, Irene;
- Navarrete, Rosa;
- Arribas‐Carreira, Laura;
- Perona, Almudena;
- Abia, David;
- Couce, María Luz;
- García‐Cazorla, Angels;
- Morais, Ana;
- Domingo, Rosario;
- Ramos, María Antonia;
- Swanson, Michael A.;
- Hove, Johan L.K.;
- Ugarte, Magdalena;
- Pérez, Belén;
- Pérez‐Cerdá, Celia;
- Rodríguez‐Pombo, Pilar
Publication type:
Article
Metabolic Rewiring and Altered Glial Differentiation in an iPSC-Derived Astrocyte Model Derived from a Nonketotic Hyperglycinemia Patient.
Published in:
International Journal of Molecular Sciences, 2024, v. 25, n. 5, p. 2814, doi. 10.3390/ijms25052814
By:
- Arribas-Carreira, Laura;
- Castro, Margarita;
- García, Fernando;
- Navarrete, Rosa;
- Bravo-Alonso, Irene;
- Zafra, Francisco;
- Ugarte, Magdalena;
- Richard, Eva;
- Pérez, Belén;
- Rodríguez-Pombo, Pilar
Publication type:
Article

Found: 5

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

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

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

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

Metabolic Rewiring and Altered Glial Differentiation in an iPSC-Derived Astrocyte Model Derived from a Nonketotic Hyperglycinemia Patient.