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Detection of Single-Nucleotide and Copy Number Defects Underlying Hyperphenylalaninemia by Next-Generation Sequencing.
Tendi, Elisabetta Anna; Morello, Giovanna; Guarnaccia, Maria; La Cognata, Valentina; Petralia, Salvatore; Messina, Maria Anna; Meli, Concetta; Fiumara, Agata; Ruggieri, Martino; Cavallaro, Sebastiano.
Affiliation
  • Tendi EA; Biomedical Sciences Department, Institute for Biomedical Research and Innovation, National Research Council, Via Paolo Gaifami 18, 95026 Catania, Italy.
  • Morello G; Biomedical Sciences Department, Institute for Biomedical Research and Innovation, National Research Council, Via Paolo Gaifami 18, 95026 Catania, Italy.
  • Guarnaccia M; Biomedical Sciences Department, Institute for Biomedical Research and Innovation, National Research Council, Via Paolo Gaifami 18, 95026 Catania, Italy.
  • La Cognata V; Biomedical Sciences Department, Institute for Biomedical Research and Innovation, National Research Council, Via Paolo Gaifami 18, 95026 Catania, Italy.
  • Petralia S; Department of Drug and Health Sciences, University of Catania, 95125 Catania, Italy.
  • Messina MA; Regional Reference Center for the Treatment and Control of Congenital Metabolic Diseases of Childhood, Department of Clinical and Experimental Medicine, University Hospital Policlinico "Rodolico-San Marco", 95123 Catania, Italy.
  • Meli C; Regional Reference Center for the Treatment and Control of Congenital Metabolic Diseases of Childhood, Department of Clinical and Experimental Medicine, University Hospital Policlinico "Rodolico-San Marco", 95123 Catania, Italy.
  • Fiumara A; Regional Reference Center for the Treatment and Control of Congenital Metabolic Diseases of Childhood, Department of Clinical and Experimental Medicine, University Hospital Policlinico "Rodolico-San Marco", 95123 Catania, Italy.
  • Ruggieri M; Unit of Rare Diseases of the Nervous System in Childhood, Section of Pediatrics and Child Neuropsychiatry, Department of Clinical and Experimental Medicine, University Hospital Policlinico "Rodolico-San Marco", 95123 Catania, Italy.
  • Cavallaro S; Biomedical Sciences Department, Institute for Biomedical Research and Innovation, National Research Council, Via Paolo Gaifami 18, 95026 Catania, Italy.
Biomedicines ; 11(7)2023 Jul 04.
Article in En | MEDLINE | ID: mdl-37509538
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Full text: 1 Collection: 01-internacional Database: MEDLINE Type of study: Diagnostic_studies Language: En Journal: Biomedicines Year: 2023 Type: Article Affiliation country: Italy
Fulltext
Print
XML
PubMed Links
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Full text: 1 Collection: 01-internacional Database: MEDLINE Type of study: Diagnostic_studies Language: En Journal: Biomedicines Year: 2023 Type: Article Affiliation country: Italy