Unique presentation of cutis laxa with Leigh-like syndrome due to ECHS1 deficiency

Published 2017 View Full Article

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Title
Unique presentation of cutis laxa with Leigh-like syndrome due to ECHS1 deficiency
Authors
Keywords
Transaldolase, Cutis Laxa, Respiratory Chain Enzyme Activity, Compound Heterozygous Variant, Mitochondrial Matrix Enzyme
Journal
JOURNAL OF INHERITED METABOLIC DISEASE
Volume 40, Issue 5, Pages 745-747
Publisher
Springer Nature
Online
2017-04-13
DOI
10.1007/s10545-017-0036-4
References
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