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Design and Validation of a Custom NGS Panel Targeting a Set of Lysosomal Storage Diseases Candidate for NBS Applications.
La Cognata, Valentina; Guarnaccia, Maria; Morello, Giovanna; Ruggieri, Martino; Polizzi, Agata; Cavallaro, Sebastiano.
Affiliation
  • La Cognata V; Institute for Biomedical Research and Innovation, National Research Council, 95126 Catania, Italy.
  • Guarnaccia M; Institute for Biomedical Research and Innovation, National Research Council, 95126 Catania, Italy.
  • Morello G; Institute for Biomedical Research and Innovation, National Research Council, 95126 Catania, Italy.
  • Ruggieri M; Unit of Rare Diseases of the Nervous System in Childhood, Department of Clinical and Experimental Medicine, Section of Pediatrics and Child Neuropsychiatry, AOU "Policlinico", PO "G. Rodolico", 95123 Catania, Italy.
  • Polizzi A; Department of Educational Sciences, University of Catania, 95124 Catania, Italy.
  • Cavallaro S; Institute for Biomedical Research and Innovation, National Research Council, 95126 Catania, Italy.
Int J Mol Sci ; 22(18)2021 Sep 17.
Article in En | MEDLINE | ID: mdl-34576242
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Neonatal Screening / Lysosomal Storage Diseases / High-Throughput Nucleotide Sequencing Type of study: Diagnostic_studies / Prognostic_studies Limits: Humans / Newborn Language: En Journal: Int J Mol Sci Year: 2021 Type: Article Affiliation country: Italy
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Neonatal Screening / Lysosomal Storage Diseases / High-Throughput Nucleotide Sequencing Type of study: Diagnostic_studies / Prognostic_studies Limits: Humans / Newborn Language: En Journal: Int J Mol Sci Year: 2021 Type: Article Affiliation country: Italy