Clinical, biochemical, molecular and therapeutic characteristics of four new patients of mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency

Published 2020 View Full Article

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Title
Clinical, biochemical, molecular and therapeutic characteristics of four new patients of mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
Authors
Keywords
Ketone biosynthesis, Hypoglycemia, 3-Hydroxy-3-methylglutaryl-CoA, 4-Hydroxy-6-methyl-2pyrone, HMGCS2
Journal
CLINICA CHIMICA ACTA
Volume -, Issue -, Pages -
Publisher
Elsevier BV
Online
2020-05-26
DOI
10.1016/j.cca.2020.04.004

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