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Defects of Fatty Acid Oxidation and the Carnitine Shuttle System
Disorders of carnitine transport and long-chain FAO are a heterogenous group of disorders with a common end pathophysiology related to reduced mitochondrial energy production. Identification through newborn screening is possible for most of the disorders, but in those regions where it is not perform...
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| Udgivet i: | Pediatr Clin North Am |
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| Main Authors: | , |
| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
2017
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| Fag: | |
| Online adgang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6566095/ https://ncbi.nlm.nih.gov/pubmed/29502916 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.pcl.2017.11.006 |
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