Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Mary Gonzalez Melo"'
Autor:
Margherita Ruoppolo, Johannes A. Mayr, Marianna Caterino, Frédéric Barbey, Diana Ballhausen, Olivier Braissant, Gilles Allenbach, John O. Prior, Andrea Orlando Fontana, Mary Gonzalez Melo, David Viertl, Samuel Rotman, René G. Feichtinger, Michele Costanzo
Publikováno v:
Molecular Genetics and Metabolism. 134:287-300
Glutaric aciduria type I (GA-I, OMIM # 231670 ) is an autosomal recessive inborn error of metabolism caused by deficiency of the mitochondrial enzyme glutaryl-CoA dehydrogenase (GCDH). The principal clinical manifestation in GA-I patients is striatal
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::279a9f2f1409544f7083cdbacd65a318
https://doi.org/10.1016/j.ymgme.2021.10.003
https://doi.org/10.1016/j.ymgme.2021.10.003
Autor:
Véronique Rüfenacht, Johannes A. Mayr, Michele Costanzo, Johannes Häberle, Søren W Gersting, Margherita Ruoppolo, Noémie Remacle, Clothilde Roux, Martin Poms, Madalena Barroso, Marianna Caterino, René G. Feichtinger, Hong-Phuc Cudré-Cung, Mary Gonzalez Melo, Olivier Braissant, Cristina Cudalbu, Diana Ballhausen
Publikováno v:
Molecular genetics and metabolism. 133(2)
Glutaric aciduria type I (GA-I, OMIM # 231670) is an inborn error of metabolism caused by a deficiency of glutaryl-CoA dehydrogenase (GCDH). Patients develop acute encephalopathic crises (AEC) with striatal injury most often triggered by catabolic st
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9a6019eec29ea383cf7a6d2a44ee675b
https://pubmed.ncbi.nlm.nih.gov/33965309
https://pubmed.ncbi.nlm.nih.gov/33965309
Autor:
Noémie Remacle, Diana Ballhausen, Hector Gallart-Ayala, Sónia do Vale-Pereira, Patrick Forny, Hong-Phuc Cudré-Cung, Matthias R. Baumgartner, Mary Gonzalez-Melo, Tony Teav, Hugues Henry, Olivier Braissant
Background Methylmalonic aciduria (MMAuria) is an inborn error of metabolism leading to neurological deterioration. In this study, we used 3D organotypic brain cell cultures derived from embryos of a brain-specific Mut−/− (brain KO) mouse to inve
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::097a7dd435c59ae7c525c15aeca4dcdc
https://doi.org/10.5167/uzh-160675
https://doi.org/10.5167/uzh-160675
