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Missed Newborn Screening Case of Carnitine Palmitoyltransferase-II Deficiency
Carnitine palmitoyltransferase-II (CPT-II) deficiency can be detected through newborn screening with tandem mass spectrometry. We report a 4-year-old patient with rhabdomyolysis due to CPT-II deficiency, which was initially missed by newborn screening. The patient presented with a 2-day history of f...
Kaydedildi:
| Yayımlandı: | JIMD Rep |
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| Asıl Yazarlar: | , , , |
| Materyal Türü: | Artigo |
| Dil: | Inglês |
| Baskı/Yayın Bilgisi: |
Springer Berlin Heidelberg
2016
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| Konular: | |
| Online Erişim: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5413452/ https://ncbi.nlm.nih.gov/pubmed/27067077 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2016_528 |
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