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Primary Carnitine (OCTN2) Deficiency Without Neonatal Carnitine Deficiency
Although the diagnosis of a primary carnitine deficiency is usually based on a very low level of free and total carnitine (free carnitine: 1–5 μM, normal 20–55 μM) (Longo et al. 2006), we detected a patient via newborn screening with a total carnitine level 67 % of the normal value. At the age of 1...
Αποθηκεύτηκε σε:
| Κύριοι συγγραφείς: | , , |
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| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
Springer Berlin Heidelberg
2012
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| Θέματα: | |
| Διαθέσιμο Online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3755582/ https://ncbi.nlm.nih.gov/pubmed/23430798 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2012_198 |
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