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Screening of a healthy newborn identifies three adult family members with symptomatic glutaric aciduria type I
We report three adult sibs (one female, two males) with symptomatic glutaric acidura type I, who were diagnosed after a low carnitine level was found by newborn screening in a healthy newborn of the women. All three adults had low plasma carnitine, elevated glutaric acid levels and pronounced 3-hydr...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Elsevier
2014
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4633940/ https://www.ncbi.nlm.nih.gov/pubmed/26674492 http://dx.doi.org/10.1016/j.bbacli.2014.05.003 |