Gene research progress of hypomyelinating leukodystrophies / 中华实用儿科临床杂志
Chinese Journal of Applied Clinical Pediatrics
; (24): 69-73, 2024.
Article
em Zh
| WPRIM
| ID: wpr-1020028
Biblioteca responsável:
WPRO
ABSTRACT
Hypomyelinating leukodystrophies (HLDs) are a group of neurodegenerative diseases characterized by decreased myelination in the central nervous system, with diverse clinical manifestations like psychomotor retardation and dyskinesia.Some HLDs patients have epilepsy, microcephaly and other clinical manifestations.At present, there is no specific treatment of HLDs, and the prognosis is usually poor.At present, with the wide application of gene screening in clinical practice, many pathogenic genes related to HLDs have been found.It is particularly important to clarify the pathogenesis and clinical phenotypic changes of HLDs.
Texto completo:
1
Índice:
WPRIM
Idioma:
Zh
Revista:
Chinese Journal of Applied Clinical Pediatrics
Ano de publicação:
2024
Tipo de documento:
Article