Clinical spectrum and genetic landscape of MTHFR deficiency: a cohort study including novel variants.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2026
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Ozge Kamer Karalar Pekuz, Pelin Teke Kisa, Sevil Yildiz, Mehmet Kocabey, Tanyel Zubarioglu, Zumrut Arslan Gulten, Emine Sedef Sezen, Esra Er, Serdar Pekuz, Banu Kadioglu Yilmaz, Melis Kirmizitas, Meral Bahar Ister, Bahar Kulu, Filiz Hazan, Mustafa Kilic, Ozlem Unal Uzun, Ertugrul Kiykim, Halil Ibrahim Aydin, Sahin Erdol, Ayse Cigdem Aktuglu Zeybek, Nur Arslan. (2026). Clinical spectrum and genetic landscape of MTHFR deficiency: a cohort study including novel variants.. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology. DOI: 10.1007/s10072-026-09447-w
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