Carnitine–acylcarnitine translocase deficiency: Two neonatal cases with common splicing mutation and in vitro bezafibrate response

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Title
Carnitine–acylcarnitine translocase deficiency: Two neonatal cases with common splicing mutation and in vitro bezafibrate response
Authors
Keywords
CACT deficiency, SLC25A20, mutation, IVP assay, Bezafibrate
Journal
BRAIN & DEVELOPMENT
Volume 37, Issue 7, Pages 698-703
Publisher
Elsevier BV
Online
2014-11-01
DOI
10.1016/j.braindev.2014.10.005

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