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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
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  Data: <searchLink fieldCode="AU" term="%22Epifani+F%22">Epifani F</searchLink>; Pediatric Neurology Department, Hospital Sant Joan de Déu, Barcelona, Spain.; Institut de Recerca Sant Joan de Déu, Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Cabus+L%22">Cabus L</searchLink>; Flomics Biotech, Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Nolasco+GA%22">Nolasco GA</searchLink>; Pediatric Neurology Department, Hospital Sant Joan de Déu, Barcelona, Spain.; Institut de Recerca Sant Joan de Déu, Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Bolasell+M%22">Bolasell M</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Pérez+J%22">Pérez J</searchLink>; Flomics Biotech, Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Alcalá+A%22">Alcalá A</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Fernández+P%22">Fernández P</searchLink>; Genetic and Molecular Medicine Department, Pediatric Institute for Rare Diseases, Hospital Sant Joan de Déu, Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Lizano+E%22">Lizano E</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Márquez+G%22">Márquez G</searchLink>; Genetic and Molecular Medicine Department, Pediatric Institute for Rare Diseases, Hospital Sant Joan de Déu, Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Belmonte+S%22">Belmonte S</searchLink>; Flomics Biotech, Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Carbonell-Sala+S%22">Carbonell-Sala S</searchLink>; Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology, Barcelona, Spain.; Universitat Pompeu Fabra (UPF), Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Lagarde+J%22">Lagarde J</searchLink>; Flomics Biotech, Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Curado+J%22">Curado J</searchLink>; Flomics Biotech, Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Hernando-Davalillo+C%22">Hernando-Davalillo C</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Serrano+M%22">Serrano M</searchLink>; 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.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Wiley%22">Wiley </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>7910918 <i>Publication Model: </i>Print <i>Cited Medium: </i>Internet <i>ISSN: </i>1573-2665 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2201418955%22">01418955 </searchLink><i>NLM ISO Abbreviation: </i>J Inherit Metab Dis <i>Subsets: </i>MEDLINE
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              Text: 2025 Nov
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