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

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

doi:10.1186/s13052-017-0383-7

Italian Journal of Pediatrics

Article metrics
Last updated: Wed, 8 May 2024 0:12:28 Z

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

Access & Citations

4382

Article Accesses
7

Web of Science
9

CrossRef

Citation counts are provided from Web of Science and CrossRef. The counts may vary by service, and are reliant on the availability of their data. Counts will update daily once available.

ISSN: 1824-7288

Contact us

Submission enquiries: Access here and click Contact Us
General enquiries: info@biomedcentral.com