Reanalysis of exome sequencing data reveals a treatable neurometabolic origin in two previously undiagnosed siblings with neurodevelopmental disorder.

Susgun, Seda; Kesim, Yesim; Khalilov, Dovlat; Sirin, Nermin; Gezegen, Hasim; Salman, Baris; Yucesan, Emrah; Gokcay, Gulden; Korbeyli, Huseyin; Balci, Mehmet; Iseri, Sibel; Baykan, Betul; Bebek, Nerses

doi:10.1007/s10072-023-06699-8

Reanalysis of exome sequencing data reveals a treatable neurometabolic origin in two previously undiagnosed siblings with neurodevelopmental disorder.

Susgun S., Kesim Y., Khalilov D., Sirin N. G., Gezegen H., Salman B., ...More

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, vol.44, no.7, pp.2527-2540, 2023 (SCI-Expanded)

Publication Type: Article / Article
Volume: 44 Issue: 7
Publication Date: 2023
Doi Number: 10.1007/s10072-023-06699-8
Journal Name: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, BIOSIS, CINAHL, EMBASE, Index Islamicus, MEDLINE, Psycinfo
Page Numbers: pp.2527-2540
Keywords: Linkage analysis, Reanalysis of WES, FOLR1, Cerebral folate deficiency, Folinic acid treatment
Bezmialem Vakıf University Affiliated: Yes