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...
Kaydedildi:
| Asıl Yazarlar: | , , , , |
|---|---|
| Materyal Türü: | Artigo |
| Dil: | Inglês |
| Baskı/Yayın Bilgisi: |
Hacettepe University Institute of Child Health
2022-08-01
|
| Seri Bilgileri: | The Turkish Journal of Pediatrics |
| Konular: | |
| Online Erişim: | https://turkjpediatr.org/article/view/205 |
| Etiketler: |
Etiket eklenmemiş, İlk siz ekleyin!
|