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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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Bibliografske podrobnosti
izdano v:Pediatr Clin North Am
Main Authors: El-Gharbawy, Areeg, Vockley, Jerry
Format: Artigo
Jezik:Inglês
Izdano: 2017
Teme:
Online dostop: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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