Erschienen in:
18.04.2016 | Scientific Letter
Aicardi-Goutières Syndrome
verfasst von:
Rashid Merchant, Mitusha Verma, Ami Shah, Shilpa Kulkarni, Anil Jalan
Erschienen in:
Indian Journal of Pediatrics
|
Ausgabe 8/2016
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Excerpt
To the Editor: Aicardi-Goutières syndrome (AGS) is an autosomal recessive, severe, progressive inflammatory disorder presenting in early infancy [
1]. We describe the clinical, radiologic and biochemical findings in this syndrome and role of 5-MHTF, biopterin and neopterin as upcoming new markers to aid diagnosis. …