Llwytho...

Late diagnosis and atypical brain imaging of Aicardi–Goutières syndrome: are we failing to diagnose Aicardi–Goutières syndrome-2?

Aicardi–Goutières syndrome (AGS) is a rare disorder with in utero or postnatal onset of encephalopathy and progressive neurological deterioration. The seven genetic subtypes of AGS are associated with abnormal type I interferon-mediated innate immune response. Most patients with AGS present with pro...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Dev Med Child Neurol
Prif Awduron: SVINGEN, LEAH, GOHEEN, MITCHELL, GODFREY, RENA, WAHL, COLLEEN, BAKER, EVA H, GAHL, WILLIAM A, MALICDAN, MAY CHRISTINE V, TORO, CAMILO
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: 2017
Pynciau:
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC5685901/
https://ncbi.nlm.nih.gov/pubmed/28762473
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/dmcn.13509
Tagiau: Ychwanegu Tag
Dim Tagiau, Byddwch y cyntaf i dagio'r cofnod hwn!