New cases of δ‐aminolevulinic acid dehydratase deficiency: Functional insights into gene variants using an innovative mouse liver model
These findings underscore the molecular heterogeneity of the ALAD gene and present the first reported case of ADP in a female patient.
Authors
- Francisco Javier Castelbón
- Pauline Harper (ORCID: https://orcid.org/0000-0001-7336-2801)
- Antoni Riera‐Mestre (ORCID: https://orcid.org/0000-0001-9411-804X)
- Matías A. Ávila (ORCID: https://orcid.org/0000-0001-6570-3557)
- Marta Fanlo‐Maresma (ORCID: https://orcid.org/0000-0002-5666-8726)
- M Marcacci
- Javier T Solera (ORCID: https://orcid.org/0000-0001-6833-6625)
- Francesco Urigo (ORCID: https://orcid.org/0009-0004-8273-5509)
- Andrea Wenzel (ORCID: https://orcid.org/0009-0005-3280-0947)
- Rafael Enrı́quez de Salamanca (ORCID: https://orcid.org/0000-0003-2556-9546)
- Isabel Solares (ORCID: https://orcid.org/0000-0003-4478-2641)
- Paolo Ventura (ORCID: https://orcid.org/0000-0003-1893-1914)
- Montserrat Morales (ORCID: https://orcid.org/0000-0003-0064-9718)
- Encarna Guillén‐Navarro (ORCID: https://orcid.org/0000-0002-2915-7381)
- Daniel Jericó (ORCID: https://orcid.org/0000-0001-6184-4598)
- Giovanna Graziadei (ORCID: https://orcid.org/0000-0002-6801-5730)
- Antonio Fontanellas (ORCID: https://orcid.org/0000-0001-9279-7990)
- Bodo B. Beck (ORCID: https://orcid.org/0000-0003-0495-7670)
- Elena Di Pierro (ORCID: https://orcid.org/0000-0002-1413-1349)
- María Barreda‐Sánchez (ORCID: https://orcid.org/0000-0002-4728-8174)
- Ana Sampedro (ORCID: https://orcid.org/0000-0002-0346-0374)
- Carlo Poci
- Annamaria Nicolli
Institutions
- University of Modena and Reggio Emilia (IT)
- Karolinska University Hospital (SE)
- University of Padua (IT)
- University of Cologne (DE)
- Instituto de Salud Carlos III (ES)
- Spanish Biomedical Research Centre in Physiopathology of Obesity and Nutrition (ES)
- Bellvitge University Hospital (ES)
- Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico (IT)
- Research Institute Hospital 12 de Octubre (ES)
- Institut d'Investigació Biomédica de Bellvitge (ES)
- Centre for Biomedical Network Research on Rare Diseases (ES)
- Navarre Institute of Health Research (ES)
- Laboratoire National de Référence (MA)
- Clinica Universidad de Navarra (ES)
- Instituto Murciano de Investigación Biosanitaria (ES)
- Hospital Universitario Virgen de la Arrixaca (ES)
- Medical Research Network (US)
- Universidad Católica de Murcia (ES)
- Universitat de Barcelona (ES)
- Universidad de Murcia (ES)
- Universidad de Navarra (ES)
Publication Details
- Journal
- Journal of Internal Medicine
- Published
- 2025-11-21
- DOI
- https://doi.org/10.1111/joim.70044
- Primary Topic
- Porphyrin Metabolism and Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Fundación Mutua Madrileña
- European Commission
- Instituto de Salud Carlos III