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

Abstract Background Adenylosuccinate lyase (ADSL) deficiency is a defect of purine metabolism affecting purinosome assembly and reducing metabolite fluxes through purine de novo synthesis and purine nucleotide recycling pathways. The disorder shows a wide spectrum of symptoms from slowly to rapidly...

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Bibliografiske detaljer

Principais autores:	Marina Macchiaiolo, Sabina Barresi, Francesco Cecconi, Ginevra Zanni, Marcello Niceta, Emanuele Bellacchio, Giacomo Lazzarino, Angela Maria Amorini, Enrico Silvio Bertini, Salvatore Rizza, Benedetta Contardi, Marco Tartaglia, Andrea Bartuli
Format:	Artigo
Sprog:	Inglês
Udgivet:	BMC 2017-08-01
Serier:	Italian Journal of Pediatrics
Fag:	Adenylosuccinate lyase deficiency Whole exome sequencing Diagnosis Epilepsy
Online adgang:	http://link.springer.com/article/10.1186/s13052-017-0383-7
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