Cargando…
Endocrine Aspects of 4H Leukodystrophy: A Case Report and Review of the Literature
Introduction. 4H leukodystrophy is an autosomal recessive RNA polymerase III-related leukodystrophy, characterized by hypomyelination, with or without hypodontia (or other dental abnormalities) and hypogonadotropic hypogonadism. Case Presentation. We describe a 28-year-old female who presented with...
Autores principales: | Billington, Emma, Bernard, Geneviève, Gibson, William, Corenblum, Bernard |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Hindawi Publishing Corporation
2015
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4465690/ https://www.ncbi.nlm.nih.gov/pubmed/26113998 http://dx.doi.org/10.1155/2015/314594 |
Ejemplares similares
-
4H leukodystrophy: Mild clinical phenotype and comorbidity with multiple sclerosis
por: DeGasperis, Stephanie M., et al.
Publicado: (2020) -
Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C
por: Pelletier, Félixe, et al.
Publicado: (2020) -
Neurogenic bladder and neuroendocrine abnormalities in Pol III-related leukodystrophy
por: Potic, Ana, et al.
Publicado: (2015) -
Novel HSD17B4 Variants Cause Progressive
Leukodystrophy in Childhood: Case Report and Literature Review
por: Yamamoto, Akiyo, et al.
Publicado: (2021) -
POLR3-Related Leukodystrophy: Exploring Potential Therapeutic Approaches
por: Perrier, Stefanie, et al.
Publicado: (2021)