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Molecular Therapy : the Journal of the American Society of Gene Therapy|July 19, 2025
Therapeutic AASS inhibition by AAV-miRNA rescues glutaric aciduria type I severe phenotype in miceEulàlia Segur-Bailach, Anna Mateu-Bosch, Xavier Bofill-De Ros, et al.
Mitochondrion|November 7, 2025
Complex IV deficiency due to COX4I1 deep intronic and de novo variants results in progressive motor impairment and Leigh syndromeOlatz Ugarteburu, Laia Farré-Tarrats, Gerard Muñoz-Pujol, et al.
Brain Pathology (Zurich, Switzerland)|November 30, 2022
Leigh syndrome is the main clinical characteristic of PTCD3 deficiencyGerard Muñoz-Pujol, Juan D Ortigoza-Escobar, Abraham J Paredes-Fuentes, et al.
International Journal of Neonatal Screening|July 23, 2021
Newborn Screening for SCID. Experience in Spain (Catalonia)Ana Argudo-Ramírez, Andrea Martín-Nalda, Jose Manuel González de Aledo-Castillo, et al.
Human Genetics|June 5, 2008
The ACADS gene variation spectrum in 114 patients with short-chain acyl-CoA dehydrogenase (SCAD) deficiency is dominated by missense variations leading to protein misfolding at the cellular levelChristina B Pedersen, Steen Kølvraa, Agnete Kølvraa, et al.
Mitochondrion|December 22, 2015
A leaky splicing mutation in NFU1 is associated with a particular biochemical phenotype. Consequences for the diagnosisXènia Ferrer-Cortès, Juan Narbona, Núria Bujan, et al.
Frontiers in Immunology|November 8, 2019
First Universal Newborn Screening Program for Severe Combined Immunodeficiency in Europe. Two-Years' Experience in Catalonia (Spain)Ana Argudo-Ramírez, Andrea Martín-Nalda, Jose L Marín-Soria, et al.
Human Mutation|November 19, 2016
Mutations in TRAPPC11 are associated with a congenital disorder of glycosylationLeslie Matalonga, Miren Bravo, Carla Serra-Peinado, et al.
American Journal of Human Genetics|November 15, 2011
A fatal mitochondrial disease is associated with defective NFU1 function in the maturation of a subset of mitochondrial Fe-S proteinsAleix Navarro-Sastre, Frederic Tort, Oliver Stehling, et al.
Journal of Clinical Medicine|December 9, 2023
Preparing Enteral Formulas for Adult Patients with Phenylketonuria: A Minor Necessity but Major Challenge-A Case ReportAdriana Pané, Marcos Carrasco-Serrano, Camila Milad, et al.
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