Jaume Campistol Plana
Investigador
Research group
Last Publications
- van Wegberg AMJ, MacDonald A, Ahring K, Bélanger-Quintana A, Beblo S, Blau N, Bosch AM, Burlina A, Campistol-Plana J, Coskun T, Feillet F, Gizewska M, Huijbregts SC, Leuzzi V, Maillot F, Muntau AC, Rocha JC, Romani C, Trefz F and van Spronsen FJ European guidelines on diagnosis and treatment of phenylketonuria: First revision MOLECULAR GENETICS AND METABOLISM . 145(2): 109125-109125.
- Muntau, AC, Longo, N, Ezgu, F, Schwartz, IVD, Lah, M, Bratkovic, D, Margvelashvili, L, Kiykim, E, Zori, R, Campistol-Plana J, Bélanger-Quintana, A, Lund, A, Guilder, L, Chakrapani, A, Mungan, HN, Guimas, A, Guerra, IDC, MacDonald, A, Ingalls, K and Smith, N Effects of oral sepiapterin on blood Phe concentration in a broad range of patients with phenylketonuria (APHENITY): results of an international, phase 3, randomised, double-blind, placebo-controlled trial Lancet . 404(10460): 1333-1345.
- Campistol-Plana J Epilepsia o trastorno neurológico funcional. Estrategias para el diagnóstico. MEDICINA-BUENOS AIRES . 84 Suppl 3: 69-74.
Projects
- Project name:
- SGR 2022-2024_Precision Medicine of Genetic and Rare Diseases (PrecisionRare)
- Leader
- Francesc Palau Martínez
- Funding entities:
- Agaur - Agència de Gestió d'Ajuts Universitaris i de Recerca
- Code
- 2021 SGR 01610
- Starting - finishing date:
- 2022 - 2025
- Project name:
- Grup de Recerca en Neurociències Pediàtriques
- Leader
- Francesc Palau Martínez
- Funding entities:
- Agaur - Agència de Gestió d'Ajuts Universitaris i de Recerca
- Code
- 2017 SGR 1308
- Starting - finishing date:
- 2017 - 2021
- Project name:
- El modelo de genómica clínica - genómica funcional en la innovación diagnóstica de las enfermedades neurogenéticas (Genomiclnnova)
- Leader
- Francesc Palau Martínez
- Funding entities:
- Instituto de Salud Carlos III (ISCIII)
- Code
- DTS16/00196
- Starting - finishing date:
- 2017 - 2018