Juliana Ribeiro Constante
Investigador pre-doc
Professional network profiles
Last Publications
- Ribeiro J, Tristan-Noguero A, Martinez-Calvo FF, Ibanez-Mico S, Peña-Segura JL, Ramos-Fernandez JM, O'Callaghan-Gordo M, Campistol-Plana J, Serrano M, Xenia Alonso, Illescas KS, Ramírez-Camacho A, Sans-Capdevila O, Garcia-Cazorla A and Alonso-Colmenero I Developmental Outcome of Electroencephalographic Findings in SYNGAP1 Encephalopathy Frontiers in Cell and Developmental Biology . 12: .
- Illescas S, Diaz-Osorio Y, Serradell A, Toro-Soria L, Musokhranova U, Julià-Palacios NA, Ribeiro J, Altafaj X, Olivella M, O'Callaghan-Gordo M, Darling A, Armstrong-Moron J, Artuch-Iriberri R, Garcia-Cazorla A and De Oyarzabal-Sanz AL Metabolic characterization of neurogenetic disorders involving glutamatergic neurotransmission JOURNAL OF INHERITED METABOLIC DISEASE . : .
- Tangeraas T, Ribeiro J, Backe PH, De Oyarzabal-Sanz AL, Neugebauer J, Weinhold N, Boemer F, Debray FG, Ozturk-Hism B, Evren G, Tuba EF, Ummuhan O, Footitt E, Davison J, Martinez C, Bueno C, Machado I, Rodríguez-Pombo P, Al-Sannaa N, de los Santos MM, Muchart-Lopez J, Ozturkmen-Akay H, Karaca M, Tekin M, Pajares S, Ormazabal-Herrero A, Stoway SD, Artuch-Iriberri R, Dixon M, Mørkrid L and Garcia-Cazorla A BCKDK deficiency: a treatable neurodevelopmental disease amenable to newborn screening BRAIN . 146(7): 3003-3013.
Projects
- Project name:
- SYNGAP1: Registro nacional de pacientes Syngap1e y creación de una plataforma para estudios clínicos y basicos
- Leader
- MªAngels García Cazorla
- Funding entities:
- Asociación SYNGAP1 España
- Code
- PFNR0148
- Starting - finishing date:
- 2020 - 3000
News
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An early diagnosis and some diet changes can decrease the risk of severe symptoms in children with BCKDK metabolic deficiency
The research, under the leadership of Dr. Àngels García-Cazorla at the Institut de Recerca Sant Joan de Déu, has demonstrated that early identification of this disease is possible through the standard neonatal screening test, also known as the heel prick test.