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Farber's disease (lysosomal acid ceramidase deficiency).
The patient presented with progressive joint deformity, a hoarse voice, subsequent cachexia, and myoclonic seizures. She was first seen aged 22 months and died aged 6 years. A diagnosis of Farber's disease was made by demonstrating a deficiency of acid ceramidase both in leucocytes and fibrobla...
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| Main Authors: | , , |
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| Formato: | Artigo |
| Idioma: | English |
| Publicado em: |
1987
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1002193/ https://ncbi.nlm.nih.gov/pubmed/3662645 |
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