1.
Radiographics
; 44(4): e230072, 2024 04.
Artículo
en Inglés
| MEDLINE
| ID: mdl-38451850
Asunto(s)
Neoplasias , Niño , Humanos , Lactante , Neoplasias/complicaciones , Neoplasias/diagnóstico por imagen , Estudios Retrospectivos
2.
Mol Genet Metab Rep
; 38: 101023, 2024 Mar.
Artículo
en Inglés
| MEDLINE
| ID: mdl-38058766
RESUMEN
With the rapid advancement of medical technologies in genomic and molecular medicine, the number of treatable neurometabolic diseases is quickly expanding. Spastic paraplegia 56 (SPG56), one of the severe autosomal recessive forms of neurodegenerative disorders caused by pathogenic variants in the CYP2U1 gene, has no reported specific targeted treatment yet. Here we report 2 Chinese brothers with CYP2U1 bi-allelic pathogenic variants with cerebral folate deficiency who were treated for over a decade with folinic acid supplement. Patients have remained stable under therapy.