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Exploring a Circulating miRNA Signature for PMM2-CDG: Initial Insights Toward Diagnosis, Stratification, and Monitoring.

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Title: Exploring a Circulating miRNA Signature for PMM2-CDG: Initial Insights Toward Diagnosis, Stratification, and Monitoring.
Authors: Epifani F; Pediatric Neurology Department, Hospital Sant Joan de Déu, Barcelona, Spain.; Institut de Recerca Sant Joan de Déu, Barcelona, Spain., Cabus L; Flomics Biotech, Barcelona, Spain., Nolasco GA; Pediatric Neurology Department, Hospital Sant Joan de Déu, Barcelona, Spain.; Institut de Recerca Sant Joan de Déu, Barcelona, Spain., Bolasell M; Institut de Recerca Sant Joan de Déu, Barcelona, Spain.; Genetic and Molecular Medicine Department, Pediatric Institute for Rare Diseases, Hospital Sant Joan de Déu, Barcelona, Spain., Pérez J; Flomics Biotech, Barcelona, Spain., Alcalá A; Institut de Recerca Sant Joan de Déu, Barcelona, Spain.; Genetic and Molecular Medicine Department, Pediatric Institute for Rare Diseases, Hospital Sant Joan de Déu, Barcelona, Spain., Fernández P; Genetic and Molecular Medicine Department, Pediatric Institute for Rare Diseases, Hospital Sant Joan de Déu, Barcelona, Spain., Lizano E; Institut Català de Paleontologia Miquel Crusafont (ICP-CERCA), Universitat Autònoma de Barcelona, Barcelona, Spain.; Unidad de Paleobiología, ICP-CERCA, Unidad Asociada al CSIC Por el IBE UPF-CSIC, Barcelona, Spain., Márquez G; Genetic and Molecular Medicine Department, Pediatric Institute for Rare Diseases, Hospital Sant Joan de Déu, Barcelona, Spain., Belmonte S; Flomics Biotech, Barcelona, Spain., Carbonell-Sala S; Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology, Barcelona, Spain.; Universitat Pompeu Fabra (UPF), Barcelona, Spain., Lagarde J; Flomics Biotech, Barcelona, Spain., Curado J; Flomics Biotech, Barcelona, Spain., Hernando-Davalillo C; Institut de Recerca Sant Joan de Déu, Barcelona, Spain.; Genetic and Molecular Medicine Department, Pediatric Institute for Rare Diseases, Hospital Sant Joan de Déu, Barcelona, Spain., Serrano M; Pediatric Neurology Department, Hospital Sant Joan de Déu, Barcelona, Spain.; Institut de Recerca Sant Joan de Déu, Barcelona, Spain.; U-703 Centre for Biomedical Research on Rare Diseases (CIBER-ER), Instituto de Salud Carlos III, Barcelona, Spain.
Source: Journal of inherited metabolic disease [J Inherit Metab Dis] 2025 Nov; Vol. 48 (6), pp. e70104.
Publication Type: Journal Article
Journal Info: Publisher: Wiley Country of Publication: United States NLM ID: 7910918 Publication Model: Print Cited Medium: Internet ISSN: 1573-2665 (Electronic) Linking ISSN: 01418955 NLM ISO Abbreviation: J Inherit Metab Dis Subsets: MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:1573-2665
DOI:10.1002/jimd.70104