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Extended diagnosis of purine and pyrimidine disorders from urine: LC MS/MS assay development and clinical validation
BACKGROUND AND AIMS: Inborn errors of purine and pyrimidine metabolism are a diverse group of disorders with possible serious or life-threatening symptoms. They may be associated with neurological symptoms, renal stone disease or immunodeficiency. However, the clinical presentation can be nonspecifi...
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| Publicado no: | PLoS One |
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| Main Authors: | , , , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Public Library of Science
2019
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6394934/ https://ncbi.nlm.nih.gov/pubmed/30817767 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0212458 |
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