Extrapolation of Variant Phase in Mitochondrial Short-Chain Enoyl-CoA Hydratase (ECHS1) Deficiency
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Publisher
Springer Berlin Heidelberg
Link
http://link.springer.com/content/pdf/10.1007/8904_2018_111
Reference27 articles.
1. Al Mutairi F, Shamseldin HE, Alfadhel M et al (2017) A lethal neonatal phenotype of mitochondrial short-chain enoyl-CoA hydratase-1 deficiency. Clin Genet 91:629–633. https://doi.org/10.1111/cge.12891
2. Balasubramaniam S, Riley LG, Bratkovic D et al (2017) Unique presentation of cutis laxa with Leigh-like syndrome due to ECHS1 deficiency. J Inherit Metab Dis. https://doi.org/10.1007/s10545-017-0036-4
3. Bedoyan JK, Yang SP, Ferdinandusse S et al (2017) Lethal neonatal case and review of primary short-chain enoyl-CoA hydratase (SCEH) deficiency associated with secondary lymphocyte pyruvate dehydrogenase complex (PDC) deficiency. Mol Genet Metab 120:342–349. https://doi.org/10.1016/j.ymgme.2017.02.002
4. Ferdinandusse S, Friederich MW, Burlina A et al (2015) Clinical and biochemical characterization of four patients with mutations in ECHS1. Orphanet J Rare Dis 10:79. https://doi.org/10.1186/s13023-015-0290-1
5. Fitzsimons PE, Alston CL, Bonnen PE et al (2018) Clinical, biochemical, and genetic features of four patients with short-chain enoyl-CoA hydratase (ECHS1) deficiency. Am J Med Genet A 176:1115–1127. https://doi.org/10.1002/ajmg.a.38658
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