Litcius/Paper detail

Expanding phenotypic and mutational spectra of mitochondrial HMG-CoA synthase deficiency

Kitiwan Rojnueangnit, Parisa Maneechai, Patcharapa Thaweekul, Punnapat Piriyanon, Sookkasem Khositseth, Chupong Ittiwut, Wanna Chetruengchai, Wuttichart Kamolvisit, Thanakorn Theerapanon, Kanya Suphapeetiporn, Thantrira Porntaveetus, Vorasuk Shotelersuk

2020European Journal of Medical Genetics18 citationsDOI

Topics & Concepts

Compound heterozygosityKetogenesisExome sequencingHypoglycemiaEndocrinologyDyslipidemiaInternal medicineMutationBiologyGeneticsMedicineGeneDiabetes mellitusKetone bodiesMetabolismMetabolism and Genetic DisordersLipid metabolism and disordersRNA modifications and cancer