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From genotype to phenotype: Early prediction of disease severity in argininosuccinic aciduria
Argininosuccinic aciduria (ASA) is an inherited urea cycle disorder and has a highly variable phenotypic spectrum ranging from individuals with lethal hyperammonemic encephalopathy, liver dysfunction and cognitive deterioration, to individuals with a mild disease course. Since it is difficult to pre...
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| Publicado no: | Hum Mutat |
|---|---|
| Main Authors: | , , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2020
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7428858/ https://ncbi.nlm.nih.gov/pubmed/31943503 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.23983 |
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