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

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 progress...

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Detalhes bibliográficos
Publicado no:Ital J Pediatr
Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2017
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5541734/
https://ncbi.nlm.nih.gov/pubmed/28768552
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13052-017-0383-7
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