A rare case of hypomyelinating leukodystrophy-14 benefiting from ketogenic diet therapy

Background. Hypomyelinating leukodystrophy-14 (HLD14) is a rarely seen neurodevelopmental disease caused by homozygous pathogenic ubiquitin-fold modifier 1 gene variants. The disease has an autosomal recessive inheritance. All patients with this condition reported to date have drug-resistant...

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Κύριοι συγγραφείς:	Aycan Ünalp, Melis Köse, Pakize Karaoğlu, Yiğithan Güzin, Ünsal Yılmaz
Μορφή:	Artigo
Γλώσσα:	Inglês
Έκδοση:	Hacettepe University Institute of Child Health 2022-08-01
Σειρά:	The Turkish Journal of Pediatrics
Θέματα:	children drug-resistant epilepsy hypomyelinating leukodystrophy-14 ketogenic diet therapy
Διαθέσιμο Online:	https://turkjpediatr.org/article/view/205
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