MªAngels García Cazorla
Jefe de Grupo Senior
SJD Barcelona Children's Hospital Last Publications
- Yska HAF, Golse M, Galanaud D, Amartino HM, Bergner C, Bruschi F, Eichler FS, Fatemi A, Garcia-Cazorla A, Gómez-Chiari M, Köhler W, Loes D, Lund T, Mallack EJ, Moscatelli M, Musolino PL, Nascene DR, Orthmann-Murphy JL, Parazzini C, Pouwels PJW, Ribeiro J, Roosendaal SD, Salsano E, Sgobbi PV, Sevin C, Smith Fine A, Tonduti D, Van Haren K, Zerem A, Engelen M and Mochel F Use of Brain MRI in Cerebral Adrenoleukodystrophy: International Recommendations for Screening, Monitoring, and Research. NEUROLOGY . 106(5): .
- Deudero A, Esther Lasheras Soria, Ventura R, Montserrat-Carbonell C, Milisenda JC, Julià-Palacios NA, Matas A, Forga-Visa MT, López-Galera RM, García-Villoria J, Placeres M, Pané A, Garrabou G, Ribes A, Cardellach F, Moreno-Lozano PJ, Garcia-Cazorla A, Campistol-Plana J and Iem-Sjd-Hcb Consortia Modelling the Transference of Paediatric Patients with Inborn Errors of Metabolism to Adult Hospitals: Clinical Experience Journal of Clinical Medicine . 15(1): .
- Gavazzi F, Patel V, Erler JA, Charsar B, Vaia Y, Sevagamoorthy A, Vincent A, Woidill S, Wassmer E, Houlden H, Garcia-Cazorla A, Tonduti D, Wolf NI, Van der Knaap M, Bernard G, Adang LA and Vanderver A Critical Functional Domains in Pediatric Onset TUBB4A-Related Leukodystrophy: A Clinical and Caregiver's Perspective PEDIATRIC NEUROLOGY . 173: 156-165.
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 - 2026
- 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.
