Browsing Dahili Tıp Bilimleri Bölümü Makale Koleksiyonu by Author "Ardicli, Didem"
Now showing items 1-1 of 1
-
Clinical Outcomes Of Two Patients With A Novel Pathogenic Variant In Asns: Response To Asparagine Supplementation And Review Of The Literature
Sprute, Rosanne; Ardicli, Didem; Oguz, Kader Karli; Malenica-Mandel, Anna; Daimagüler, Hülya-Sevcan; Koy, Anne; Coskun, Turgay; Wang, Haicui; Topcu, Meral; Cirak, Sebahattin (2019)Asparagine synthetase deficiency (ASNSD, OMIM #615574) is a rare autosomal recessive neurometabolic inborn error that leads to severe cognitive impairment. It manifests with microcephaly, intractable seizures, and progressive ...