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...
Saved in:
| Main Authors: | Aycan Ünalp, Melis Köse, Pakize Karaoğlu, Yiğithan Güzin, Ünsal Yılmaz |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Hacettepe University Institute of Child Health
2022-08-01
|
| Series: | The Turkish Journal of Pediatrics |
| Subjects: | |
| Online Access: | https://turkjpediatr.org/article/view/205 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
Similar Items
-
Trichothiodystrophy due to ERCC2 Variants: Uncommon Contributor to Progressive Hypomyelinating Leukodystrophy
by: Ali Reza Tavasoli, et al.
Published: (2025-02-01) -
POLR3A-related hypomyelinating leukodystrophy: case report and literature review
by: A. F. Murtazina, et al.
Published: (2021-12-01) -
SHQ1-related hypomyelinating leukodystrophy: A case report with imaging features and a homozygous variant
by: Abdullah AlBathi, MBBS, et al.
Published: (2025-11-01) -
Novel Gene Mutation Variant in Hypomyelinating Leukodystrophy-8: A Case Report
by: Shalesh Rohatgi, et al.
Published: (2024-11-01) -
Segmentation of intrinsically very low contrast magnetic resonance brain images using tensor-based DTI registration
by: M.L. Al-Saady, et al.
Published: (2022-12-01)