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Publications for mjvribeiro
(5)
2022
Cellular studies to evaluate mitochondria function on MADD, a rare metabolic disorder
(2022)
Filipa S Carvalho et al., with 6 authors including:
Filipa S Carvalho
Joana V Ribeiro
Hugo M Botelho
Cláudio M Gomes
Bárbara J. Henriques
Conference papers
2020
Functional Recovery of a GCDH Variant Associated to Severe Deflavinylation—Molecular Insights into Potential Beneficial Effects of Riboflavin Supplementation in Glutaric Aciduria-Type I Patients
(2020)
Joana V. Ribeiro
Cláudio M. Gomes
Bárbara J. Henriques
Journal articles
2019
Potential complementation effects of two disease-associated mutations in tetrameric glutaryl-CoA dehydrogenase is due to inter subunit stability-activity counterbalance
(2019)
Joana V. Ribeiro
Tânia G. Lucas
Peter Bross
Cláudio M. Gomes
Bárbara J. Henriques
Journal articles
2018
Biochemical studies on clinical variants of Glutaryl-CoA Dehydrogenase, a mitochondrial enzyme involved in the rare disease Glutaric Aciduria type-I
(2018)
Maria Joana Valente Ribeiro
Bárbara J. Henriques
Cláudio M. Gomes
Academic documents
2018
Structural and functional effects of clinical missense mutations on glutaryl-CoA dehydrogenase
(2018)
Joana V. Ribeiro
Tânia G. Lucas
Peter Bross
Cláudio M. Gomes
Bárbara J. Henriques
Conference papers