MªAngels García Cazorla
Jefe de Grupo Senior
SJD Barcelona Children's Hospital Last Publications
- Garcia-Arenas D, Barrau-Martinez B, Gonzalez-Rodriguez A, Llorach R, Campistol-Plana J, Garcia-Cazorla A, Ormazabal-Herrero A and Urpi-Sarda M Effect of Special Low-Protein Foods Consumption in the Dietary Pattern and Biochemical Profile of Patients with Inborn Errors of Protein Metabolism: Application of a Database of Special Low-Protein Foods. Nutrients . 15(15): .
- Roubertie, A, Opladen, T, Brennenstuhl, H, Hubschmann, OK, Flint, L, Willemsen, MA, Leuzzi, V, Garcia-Cazorla A, Kurian, MA, Francois-Heude, MC, Hwu, P, Ben Zeev, B, Kiening, K, Roujeau, T, Pons, R and Pearson, TS Gene therapy for aromatic L-amino acid decarboxylase deficiency: Requirements for safe application and knowledge-generating follow-up 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:
- Phenylbutyrate in genetic synaptopathies
- Leader
- MªAngels García Cazorla
- Funding entities:
- Immedica Pharma AB
- Code
- PCP00365
- Starting - finishing date:
- 2023 - 2023
- Project name:
- SGR 2022-2024_Neurociències Pediàtriques
- Leader
- MªAngels García Cazorla
- Funding entities:
- Agaur - Agència de Gestió d'Ajuts Universitaris i de Recerca
- Code
- 2021 SGR 01546
- Starting - finishing date:
- 2022 - 2024
- Project name:
- Sinapsis en un chip: medicina personalizada en trastornos genéticos del neurodesarrollo que afectan a la comunicación sináptica
- Leader
- MªAngels García Cazorla
- Funding entities:
- Instituto de Salud Carlos III (ISCIII)
- Code
- PI21/00073
- Starting - finishing date:
- 2022 - 2024
News
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Researchers generate a stem cell-based model to study an ultra-rare disease that causes childhood parkinsonism
Researchers from the Institut de Recerca Sant Joan de Déu (IRSJD), the Bellvitge Biomedical Research Institute (IDIBELL), Sant Pau Research Institute (IIB Sant Pau) and the UB generated the first model of this disease that reproduce patients' characteristics and response to treatment.
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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.
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New tool to predict severity in Nonketotic Hyperglycinemia, a rare disease
An international team led by Dr Àngels García Cazorla, a researcher at the Institut de Recerca Sant Joan de Déu and a pediatric neurologist at the SJD Barcelona Children’s Hospital, has presented a new approach to nonketotic hyperglycinemia that can predict the severity in affected children. The study was published in the journal Annals of Neurology.