Successful diagnosis of HIBCH deficiency from exome sequencing and positive retrospective analysis of newborn screening cards in two siblings presenting with Leigh's disease

Title
Successful diagnosis of HIBCH deficiency from exome sequencing and positive retrospective analysis of newborn screening cards in two siblings presenting with Leigh's disease
Authors
Keywords
HIBCH deficiency, Hydroxy-C4-carnitine, Valine metabolism, Newborn screening, Leigh syndrome
Journal
MOLECULAR GENETICS AND METABOLISM
Volume 115, Issue 4, Pages 161-167
Publisher
Elsevier BV
Online
2015-05-15
DOI
10.1016/j.ymgme.2015.05.008

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