MªAngels García Cazorla
Jefe de Grupo Senior
SJD Barcelona Children's Hospital Last Publications
- Asbreuk MABC, Schoenmakers DH, Adang LA, Beerepoot S, Bergner C, Bley A, Boelens JJ, Bugiani M, Calbi V, Garcia-Cazorla A, Eklund EA, Fumagalli F, Grønborg SW, Groeschel S, Van Hasselt PM, Hollak CEM, Jones SA, de Koning TJ, van Kuilenburg ABP, Laugwitz L, Lindemans C, Mochel F, Øberg A, Ram D, Schöls L, Sevin C, Sinha J, Vaz FM, Zerem A and Wolf NI Metachromatic Leukodystrophy Neurology . 105(2): .
- Schoenmakers DH, Asbreuk MABC, Martin T, Datema M, Beerepoot S, Inbar-Feigenberg M, Groeschel S, Kehrer C, Øberg A, Sevin C, Fumagalli F, Bergner CG, Vieira P, Bley A, Uusimaa J, Horn MA, Brožová K, Stögmann E, Pichler H, Lüftinger R, Eklund EA, Mochel F, Adang LA, Laugwitz L, Boelens JJ, Calbi V, Darling A, Garcia-Cazorla A, Grønborg SW, Lindemans CA, van Hasselt PM, Hollak CEM, de Koning TJ, Ram D, Dekker H, Schöls L, Zerem A, Graessner H and Wolf NI Key lessons from the first international treatment eligibility committee: the case of metachromatic leukodystrophy EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY . 57: 72-81.
- Garcia-Cazorla A, Sevin C, Ribeiro J, Yazbeck E, Rosewich H, Jimenez S, Chia-Yi Chiang G, Rapalino O, Caruso P, Balentine D, Helmer KG, Bennett S, Emanuele M, Rodriguez-Pascau L, Pizcueta P, Pina G, Vilà A, Rovira M, Mantilla A, Meya U, Mistry A, Pascual M, Pascual S, Martinell M, Musolino PL and Mallack E Safety and efficacy of leriglitazone in childhood cerebral adrenoleukodystrophy (NEXUS): an interim analysis of an open-label, phase 2/3 trial EClinicalMedicine . 84: 103265-103265.
Projects
- Project name:
- Eficacia y tolerabilidad de la coenzima Q (Ubiquinol) en pacientes con trastornos mitocondriales y ataxias cerebelosas
- Leader
- MªAngels García Cazorla
- Funding entities:
- Instituto de Salud Carlos III (ISCIII)
- Code
- ICI22/00092
- Starting - finishing date:
- 2023 - 2026
- Project name:
- ÚNICAS. Implementation of a Pediatric Network for Personalised Medicine in rare pediatric diseases. A Pilot Project.
- Leader
- Rafael Artuch Iriberri
- Funding entities:
- Artuch Iriberri, Rafael, Instituto de Salud Carlos III (ISCIII), Fundació Privada per a la Recerca i la Docència Sant Joan de Déu - FSJD
- Code
- PMP22/00008
- Starting - finishing date:
- 2023 - 2025
- Project name:
- Phenylbutyrate in genetic synaptopathies
- Leader
- MªAngels García Cazorla
- Funding entities:
- Immedica Pharma AB
- Code
- PCP00365
- Starting - finishing date:
- 2023 - 2023
News
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A study led by Sant Joan de Déu shows promising results for a new treatment for childhood cerebral adrenoleukodystrophy
An international study led by Sant Joan de Déu explores the first oral therapy to slow childhood cerebral adrenoleukodystrophy, a devastating rare disease.
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The amino acid L-serine shows efficacy in treating patients with mutations in GRIN genes
A clinical trial led by Dr Àngels García-Cazorla (IRSJD), has demonstrated the potential of the amino acid L-serine, administered as an oral supplement, to improve the function of glutamate receptors in patients with GRINpathies. The trial involved 24 children from different hospitals in Spain.
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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.