MªAngels García Cazorla
Jefe de Grupo Senior
SJD Barcelona Children's Hospital Last Publications
- Tokatly Latzer I, Roullet JB, Cesaro S, DiBacco ML, Arning E, Rotenberg A, Lee HHC, Opladen T, Jeltsch K, Garcia-Cazorla A, Julià-Palacios NA, Gibson KM, Bertoldi M and Pearl PL Phenotypic correlates of structural and functional protein impairments resultant from ALDH5A1 variants. HUMAN GENETICS . 142(12): 1755-1776.
- Tokatly Latzer I, Hanson E, Bertoldi M, Garcia-Cazorla A, Tsuboyama M, MacMullin P, Rotenberg A, Roullet JB and Pearl PL Autism spectrum disorder and GABA levels in children with succinic semialdehyde dehydrogenase deficiency. DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY . 65(12): 1596-1606.
- 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 . : .
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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Advances in Research on Rett Syndrome
A study conducted by the Paediatric Neurometabolic Disorders: Neural Communication Mechanisms and Personalised Therapies Group at IRSJD · SJD Barcelona Children's Hospital confirms mitochondrial dysfunction in two distinct models of Rett syndrome, highlighting the significance of distinguishing between brain regions and stages of the disease. The findings of this study open up new avenues for treatment development.
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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.