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Characterization and outcome of 41 patients with beta-ketothiolase deficiency: 10 years’ experience of a medical center in northern Vietnam
TLDR
Investigation findings of haplotypes linked to the most common ACAT1 mutation are consistent with an ancient common founder of mutation-bearing chromosomes belonging to the Kinh ethnic population, which is consistent with the natural history of this rare disease.
The first case in Asia of 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency (HSD10 disease) with atypical presentation
TLDR
The first patient with HSD10 disease in Asia is reported, with atypical clinical presentation, and a normal level of the HSD17B10 protein was found by immunoblot analysis but no 2M3HBD enzyme activity was detected in enzyme assays using the patient’s fibroblasts.
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