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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...

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Detaylı Bibliyografya
Yayımlandı:JIMD Rep
Asıl Yazarlar: Edmondson, Andrew C., Salant, Jennifer, Ierardi-Curto, Lynne A., Ficicioglu, Can
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Springer Berlin Heidelberg 2016
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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