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Maternal Glutaric Acidemia, Type I Identified by Newborn Screening
We report two women with glutaric acidemia type I in whom the diagnosis was unsuspected until a low carnitine level was found in their newborn children. Both mothers had low carnitine in plasma. In the first, organic acid analysis was only done after fibroblast studies revealed normal carnitine upta...
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| Główni autorzy: | , , , , , , |
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| Format: | Artigo |
| Język: | Inglês |
| Wydane: |
2008
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| Hasła przedmiotowe: | |
| Dostęp online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2474772/ https://ncbi.nlm.nih.gov/pubmed/18304851 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgme.2008.01.005 |
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