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Clinical characteristics and phenotype distribution in 10 Chinese patients with X-linked adrenoleukodystrophy
X-linked adrenoleukodystrophy (X-ALD) is the most frequent type of inherited demyelinating peroxisomal disease caused by mutations in the ATP binding cassette subfamily D member 1 (ABCD1) gene. The rate of early recognition and genetic diagnosis of X-ALD remains low due to its variable clinical mani...
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| Publicado no: | Exp Ther Med |
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| Main Authors: | , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
D.A. Spandidos
2019
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6704587/ https://ncbi.nlm.nih.gov/pubmed/31452695 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3892/etm.2019.7804 |
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