Featured Projects. Adeno-associated viral gene therapy with AAV9-GCDH to correct glutaric acidura type I in Gdch -/- mice. Principal investigator: Antonia ...

Proyectos destacados · Adeno-associated viral gene therapy with AAV9-GCDH to correct glutaric acidura type I in Gdch -/- mice · Identificación y caracterización ...

SOCIETY FOR THE STUDY OF INBORN ERRORS OF METABOLISM. The aim of the society is to foster the study of inherited metabolic disorders and related topics.

SciProfiles provides open access to the scholarly community, offering comprehensive profiles where researchers can highlight their academic life, ...

Antonia Ribes. View All. mini profile avatar Antonia Ribes. Overview · Bio · Network24 · Publications50 · Editorial Contributions0 ...

Diagnóstico, fisiopatología y tratamiento en la deficiéncia cerebral de Creatina. Subproyecto 4: Estudio de capturación de creatina, con distintos ...

2024/05/28 · Dr Antonia RIBES RUBIÓ. Activité(s) référencée(s) par Orphanet. Investigateur de projet de recherche; Responsable de tests diagnostiques.

Antonia Ribes's 241 research works with 6391 citations, including: Genome and RNA sequencing were essential to reveal cryptic intronic variants associated ...

We report the case of a 10-year-old Spanish girl with mutations in NADK2 Prenatal central nervous system abnormalities showed ventriculomegaly, colpocephaly, ...