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Electroclinical features and phenotypic differences in adenylosuccinate lyase deficiency: Long-term follow-up of seven patients from four families and appraisal of the literature.
Cutillo, Gianni; Masnada, Silvia; Lesca, Gaetan; Ville, Dorothée; Accorsi, Patrizia; Giordano, Lucio; Pichiecchio, Anna; Valente, Marialuisa; Borrelli, Paola; Ferraro, Ottavia Eleonora; Veggiotti, Pierangelo.
  • Cutillo G; Department of Pediatric Neurology, Pediatric Neurology Unit, Buzzi Children's Hospital, Milan, Italy.
  • Masnada S; Department of Pediatric Neurology, Pediatric Neurology Unit, Buzzi Children's Hospital, Milan, Italy.
  • Lesca G; Department of Genetics, Lyon University Hospitals, Lyon, France.
  • Ville D; Derpartment of Pediatric Neurology, Lyon University Hospital, Lyon, France.
  • Accorsi P; Child Neuropsychiatric Division, Spedali Civili, Brescia, Italy.
  • Giordano L; Child Neuropsychiatric Division, Spedali Civili, Brescia, Italy.
  • Pichiecchio A; Neuroradiology Department, IRCCS C.Mondino National Neurological Institute, Pavia, Italy.
  • Valente M; Clinical Pathology Unit, Medical Genetics Section, SS. Annunziata Hospital, Taranto, Italy.
  • Borrelli P; Department of Medical, Oral and Biotechnological Sciences, Laboratory of Biostatistics, University "G. D'Annunzio", Pescara, Italy.
  • Ferraro OE; Department of Public Health, Experimental and Forensic Medicine, Unit of Biostatistics and Clinical Epidemiology, University of Pavia, Pavia, Italy.
  • Veggiotti P; Department of Pediatric Neurology, Pediatric Neurology Unit, Buzzi Children's Hospital, Milan, Italy.
Epilepsia Open ; 9(1): 106-121, 2024 Feb.
Article en En | MEDLINE | ID: mdl-37842880
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Errores Innatos del Metabolismo de la Purina-Pirimidina / Trastorno Autístico / Adenilosuccinato Liasa / Epilepsia Límite: Humans / Newborn Idioma: En Año: 2024 Tipo del documento: Article
Texto completo
Imprimir
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PubMed Links
Search on Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Errores Innatos del Metabolismo de la Purina-Pirimidina / Trastorno Autístico / Adenilosuccinato Liasa / Epilepsia Límite: Humans / Newborn Idioma: En Año: 2024 Tipo del documento: Article