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.

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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

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article

New cases of δ‐aminolevulinic acid dehydratase deficiency: Functional insights into gene variants using an innovative mouse liver model

Francisco Javier Castelbón, Pauline Harper, Antoni Riera‐Mestre, Matías A. Ávila et al.
Journal of Internal Medicine
Porphyrin Metabolism and Disorders
article

New cases of δ‐aminolevulinic acid dehydratase deficiency: Functional insights into gene variants using an innovative mouse liver model

Francisco Javier Castelbón, Pauline Harper, Antoni Riera‐Mestre, Matías A. Ávila, Marta Fanlo‐Maresma, M Marcacci, Javier T Solera, Francesco Urigo, Andrea Wenzel, Rafael Enrı́quez de Salamanca, Isabel Solares, Paolo Ventura, Montserrat Morales, Encarna Guillén‐Navarro, Daniel Jericó, Giovanna Graziadei, Antonio Fontanellas, Bodo B. Beck, Elena Di Pierro, María Barreda‐Sánchez, Ana Sampedro, Carlo Poci, Annamaria Nicolli
article en

Abstract

These findings underscore the molecular heterogeneity of the ALAD gene and present the first reported case of ADP in a female patient.

Journal of Internal MedicineVol. 299(1)
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)
Fundación Mutua Madrileña, European Commission, Instituto de Salud Carlos III
Openalex Percentile: Top 68%
Porphyrin Metabolism and Disorders
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