Laurie H Seaver Xue-Ying He Keith Abe Tina Cowan Gregory M Enns Lawrence Sweetman Manfred Philipp Sansan Lee Mazhar Malik Song-Yu Yang
10.1371/journal.pone.0027348
PLoS One
2011;6(11):e27348.
CC BY
https://pubmed.ncbi.nlm.nih.gov/22132097/
3-Hydroxyacyl CoA Dehydrogenases / genetics Athetosis / complications Chorea / complications Epilepsy / complications Epilepsy / genetics Learning Disabilities / complications Mutation / genetics
3-Hydroxyacyl CoA Dehydrogenases / genetics Athetosis / complications Chorea / complications Epilepsy / complications Epilepsy / genetics Learning Disabilities / complications Mutation / genetics Case Reports Research Support, Non-U.S. Gov't 3-Hydroxyacyl CoA Dehydrogenases / chemistry Adult Amino Acid Sequence Athetosis / enzymology Athetosis / genetics Athetosis / urine Base Sequence Carboxylic Acids / urine Child Child, Preschool Chorea / enzymology Chorea / genetics Chorea / urine DNA Mutational Analysis Electroencephalography Electron Transport Epilepsy / enzymology Epilepsy / urine Female Fibroblasts / enzymology Humans Infant, Newborn Learning Disabilities / enzymology Learning Disabilities / genetics Learning Disabilities / urine Male Metabolic Networks and Pathways Mitochondria / enzymology Molecular Sequence Data Polymorphism, Restriction Fragment Length Pregnancy Carboxylic Acids 3-Hydroxyacyl CoA Dehydrogenases HSD17B10 protein, human
PMC3222643
22132097
A novel mutation in the HSD17B10 gene of a 10-year-old boy with refractory epilepsy, choreoathetosis and learning disability
2011