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