Clinical spectrum and genetic landscape of MTHFR deficiency: a cohort study including novel variants.

Karalar Pekuz, Ozge; Teke Kisa, Pelin; Yildiz, Sevil; Kocabey, Mehmet; Zubarioglu, Tanyel; Arslan Gulten, Zumrut; Sezen, Emine; Er, Esra; Pekuz, Serdar; Kadioglu Yilmaz, Banu; Kirmizitas, Melis; Ister, Meral; Kulu, Bahar; Hazan, Filiz; Kilic, Mustafa; Unal Uzun, ÖZLEM; Kiykim, Ertugrul; Aydin, Halil; Erdol, Sahin; Aktuglu Zeybek, Ayse; Arslan, Nur

doi:10.1007/s10072-026-09447-w

Clinical spectrum and genetic landscape of MTHFR deficiency: a cohort study including novel variants.

Karalar Pekuz O. K., Teke Kisa P., Yildiz S., Kocabey M., Zubarioglu T., Arslan Gulten Z., ...Daha Fazla

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, cilt.47, sa.10, 2026 (SCI-Expanded, Scopus)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 47 Sayı: 10
Basım Tarihi: 2026
Doi Numarası: 10.1007/s10072-026-09447-w
Dergi Adı: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, BIOSIS, CINAHL, EMBASE, Index Islamicus, MEDLINE, Psycinfo, Academic Search Ultimate (EBSCO), Biomedical Reference Collection: Corporate Edition (EBSCO), Health Research Premium Collection (ProQuest), Pharma Collection (ProQuest), Psychology & Behavioral Sciences Collection (EBSCO)
Kocaeli Üniversitesi Adresli: Evet