Single gene, two diseases, and multiple clinical presentations: Biotin-thiamine-responsive basal ganglia disease

KILIÇ, Betül; TOPÇU, Yasemin; Dursuna, Siar; Erol, Ilknur; Dolu, Merve; Tasdemir, Haydar; AYDIN, Kürşad

doi:10.1016/j.braindev.2020.05.008

Single gene, two diseases, and multiple clinical presentations: Biotin-thiamine-responsive basal ganglia disease

KILIÇ B., TOPÇU Y., Dursuna S., Erol I., Dolu M. H., Tasdemir H. A., ...Daha Fazla

BRAIN & DEVELOPMENT, cilt.42, sa.8, ss.572-580, 2020 (SCI-Expanded, Scopus)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 42 Sayı: 8
Basım Tarihi: 2020
Doi Numarası: 10.1016/j.braindev.2020.05.008
Dergi Adı: BRAIN & DEVELOPMENT
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, BIOSIS, EMBASE, MEDLINE, Psycinfo
Sayfa Sayıları: ss.572-580
Anahtar Kelimeler: SLC19A3, Thiamine, Biotin, Clinical presentation, MRI patterns, EXOME SEQUENCING REVEALS, SLC19A3, MUTATIONS, PHENOTYPE
Ondokuz Mayıs Üniversitesi Adresli: Evet

Özet

Aim: To present seven new genetically confirmed cases of biotin-thiamin-responsive basal ganglia disease (BTBGD) with different clinical and brain magnetic resonance imaging (MRI) characteristics.