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Macchiaiolo, Marina; Barresi, Sabina; Cecconi, Francesco; Zanni, Ginevra; Niceta, Marcello; Bellacchio, Emanuele; Lazzarino, Giacomo; Amorini, Angela Maria; Bertini, Enrico Silvio; Rizza, Salvatore; Contardi, Benedetta; Tartaglia, Marco; Bartuli, Andrea

A mild form of adenylosuccinate lyase deficiency in absence of typical brain MRI features diagnosed by whole exome sequencing

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  • Media type: E-Article
  • Title: A mild form of adenylosuccinate lyase deficiency in absence of typical brain MRI features diagnosed by whole exome sequencing
  • Contributor: Macchiaiolo, Marina; Barresi, Sabina; Cecconi, Francesco; Zanni, Ginevra; Niceta, Marcello; Bellacchio, Emanuele; Lazzarino, Giacomo; Amorini, Angela Maria; Bertini, Enrico Silvio; Rizza, Salvatore; Contardi, Benedetta; Tartaglia, Marco; Bartuli, Andrea
  • Published: Springer Science and Business Media LLC, 2017
  • Published in: Italian Journal of Pediatrics, 43 (2017) 1
  • Language: English
  • DOI: 10.1186/s13052-017-0383-7
  • ISSN: 1824-7288
  • Origination:
  • Footnote:
  • Access State: Open Access