Combined biochemical profiling and DNA sequencing in the expanded newborn screening for inherited metabolic diseases: the experience in an Italian reference center.
Saved in:
| Title: | Combined biochemical profiling and DNA sequencing in the expanded newborn screening for inherited metabolic diseases: the experience in an Italian reference center. |
|---|---|
| Authors: | Fecarotta S; Department of Translational Medicine, University of Naples 'Federico II', Naples, Italy.; Azienda Ospedaliera Universitaria 'Federico II', Naples, Italy.; European Reference Network for Hereditary Metabolic Diseases, Naples, Italy., Vaccaro L; Department of Translational Medicine, University of Naples 'Federico II', Naples, Italy.; Telethon Institute of Genetics and Medicine (TIGEM), Armenise/Harvard Laboratory of Integrative Genomics, Pozzuoli, Italy., Verde A; Department of Translational Medicine, University of Naples 'Federico II', Naples, Italy.; Azienda Ospedaliera Universitaria 'Federico II', Naples, Italy.; European Reference Network for Hereditary Metabolic Diseases, Naples, Italy., Alagia M; Department of Translational Medicine, University of Naples 'Federico II', Naples, Italy.; Azienda Ospedaliera Universitaria 'Federico II', Naples, Italy.; European Reference Network for Hereditary Metabolic Diseases, Naples, Italy., Rossi A; Department of Translational Medicine, University of Naples 'Federico II', Naples, Italy.; Azienda Ospedaliera Universitaria 'Federico II', Naples, Italy.; European Reference Network for Hereditary Metabolic Diseases, Naples, Italy., Colantuono C; NEGEDIA Srl, Pozzuoli, Naples, Italy., Cacciapuoti MT; NEGEDIA Srl, Pozzuoli, Naples, Italy., Annunziata P; NEGEDIA Srl, Pozzuoli, Naples, Italy., Riccardo S; NEGEDIA Srl, Pozzuoli, Naples, Italy., Grimaldi A; Department of Translational Medicine, University of Naples 'Federico II', Naples, Italy.; Telethon Institute of Genetics and Medicine (TIGEM), Armenise/Harvard Laboratory of Integrative Genomics, Pozzuoli, Italy., Fusco T; Department of Translational Medicine, University of Naples 'Federico II', Naples, Italy.; Telethon Institute of Genetics and Medicine (TIGEM), Armenise/Harvard Laboratory of Integrative Genomics, Pozzuoli, Italy., De Santis R; Department of Translational Medicine, University of Naples 'Federico II', Naples, Italy.; Telethon Institute of Genetics and Medicine (TIGEM), Armenise/Harvard Laboratory of Integrative Genomics, Pozzuoli, Italy., Barretta F; Department of Molecular Medicine and Medical Biotechnology, University of Naples 'Federico II', Naples, Italy.; CEINGE Advanced Biotechnologies Franco Salvatore, Naples, Italy., Albano L; CEINGE Advanced Biotechnologies Franco Salvatore, Naples, Italy., Crisci D; CEINGE Advanced Biotechnologies Franco Salvatore, Naples, Italy., Vallone F; CEINGE Advanced Biotechnologies Franco Salvatore, Naples, Italy., Tarallo A; Department of Translational Medicine, University of Naples 'Federico II', Naples, Italy.; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Italy., Cesana M; Telethon Institute of Genetics and Medicine (TIGEM), Armenise/Harvard Laboratory of Integrative Genomics, Pozzuoli, Italy.; Department of Advanced Biomedical Sciences, University of Naples 'Federico II', Naples, Italy., Brunetti-Pierri N; Department of Translational Medicine, University of Naples 'Federico II', Naples, Italy.; Azienda Ospedaliera Universitaria 'Federico II', Naples, Italy.; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Italy.; Genomics and Experimental Medicine Program, Scuola Superiore Meridionale (SSM, School of Advanced Studies), Naples, Italy., Frisso G; Department of Molecular Medicine and Medical Biotechnology, University of Naples 'Federico II', Naples, Italy.; CEINGE Advanced Biotechnologies Franco Salvatore, Naples, Italy., Ruoppolo M; Department of Molecular Medicine and Medical Biotechnology, University of Naples 'Federico II', Naples, Italy.; CEINGE Advanced Biotechnologies Franco Salvatore, Naples, Italy., Cacchiarelli D; Department of Translational Medicine, University of Naples 'Federico II', Naples, Italy. davide.cacchiarelli@unina.it.; Telethon Institute of Genetics and Medicine (TIGEM), Armenise/Harvard Laboratory of Integrative Genomics, Pozzuoli, Italy. davide.cacchiarelli@unina.it.; Genomics and Experimental Medicine Program, Scuola Superiore Meridionale (SSM, School of Advanced Studies), Naples, Italy. davide.cacchiarelli@unina.it., Parenti G; Department of Translational Medicine, University of Naples 'Federico II', Naples, Italy. parenti@unina.it.; Azienda Ospedaliera Universitaria 'Federico II', Naples, Italy. parenti@unina.it.; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Italy. parenti@unina.it.; Genomics and Experimental Medicine Program, Scuola Superiore Meridionale (SSM, School of Advanced Studies), Naples, Italy. parenti@unina.it. |
| Source: | Orphanet journal of rare diseases [Orphanet J Rare Dis] 2025 Jan 24; Vol. 20 (1), pp. 38. Date of Electronic Publication: 2025 Jan 24. |
| Publication Type: | Journal Article |
| Journal Info: | Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
|
Full text is not displayed to guests.
Login for full access.
|
|
| ISSN: | 1750-1172 |
|---|---|
| DOI: | 10.1186/s13023-025-03546-1 |
