Successful treatment of intractable epilepsy with ketogenic diet therapy in twins with ALG3-CDG

Paketci, C.; Edem, P.; Hiz, AYŞE; Sonmezler, E.; Soydemir, D.; Uzan, GAMZE; OKTAY, YAVUZ; O'Heir, E.; Beltran, S.; Laurie, S.; Topf, A.; Lochmuller, H.; Horvath, R.; Yis, U.

doi:10.1016/j.braindev.2020.04.008

Successful treatment of intractable epilepsy with ketogenic diet therapy in twins with ALG3-CDG

Atıf İçin Kopyala

Paketci C., Edem P., Hiz S., Sonmezler E., Soydemir D., Uzan G., ...Daha Fazla

BRAIN & DEVELOPMENT, cilt.42, sa.7, ss.539-545, 2020 (SCI-Expanded)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 42 Sayı: 7
Basım Tarihi: 2020
Doi Numarası: 10.1016/j.braindev.2020.04.008
Dergi Adı: BRAIN & DEVELOPMENT
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, BIOSIS, EMBASE, MEDLINE, Psycinfo
Sayfa Sayıları: ss.539-545
Anahtar Kelimeler: ALG3, Congenital disorders of glycosylation, Developmental delay, Hemangioma, Intractable epilepsy, Ketogenic diet, DEFICIENT GLYCOPROTEIN SYNDROME, CONGENITAL DISORDER, 2 SIBLINGS, GLYCOSYLATION, FEATURES
Dokuz Eylül Üniversitesi Adresli: Evet

Özet

Background: Congenital disorders of glycosylation (CDG) is a heterogeneous group of congenital metabolic diseases with multisystem clinical involvement. ALG3-CDG is a very rare subtype with only 24 cases reported so far.