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Recognizable phenotypes in CDG
Pattern recognition, using a group of characteristic, or discriminating features, is a powerful tool in metabolic diagnostic. A classic example of this approach is used in biochemical analysis of urine organic acid analysis, where the reporting depends more on the correlation of pertinent positive a...
Gardado en:
| Publicado en: | J Inherit Metab Dis |
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| Main Authors: | , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado: |
2018
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| Assuntos: | |
| Acceso en liña: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5960425/ https://ncbi.nlm.nih.gov/pubmed/29654385 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s10545-018-0156-5 |
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