A carregar...
An unusual presentation of X-linked adrenoleukodystrophy
X-linked adrenoleukodystrophy (X-ALD) is a rare genetic condition caused by mutations in the ABCD1 gene that result in accumulation of very long chain fatty acids (VLCFAs) in various tissues. This leads to demyelination in the CNS and impaired steroidogenesis in the adrenal cortex and testes. A 57-y...
Na minha lista:
| Publicado no: | Endocrinol Diabetes Metab Case Rep |
|---|---|
| Main Authors: | , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Bioscientifica Ltd
2015
|
| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4655831/ https://ncbi.nlm.nih.gov/pubmed/26609365 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1530/EDM-15-0098 |
| Tags: |
Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!
|