article_metadata: Laurie H Seaver Xue-Ying He Keith Abe Tina Cowan Gregory M Enns Lawrence Sweetman Manfred Philipp Sansan Lee Mazhar Malik Song-Yu Yang
article_metadata: 10.1371/journal.pone.0027348
article_metadata: PLoS One
article_metadata: 2011;6(11):e27348.
article_metadata: CC BY
article_metadata: https://pubmed.ncbi.nlm.nih.gov/22132097/
article_metadata: 3-Hydroxyacyl CoA Dehydrogenases / genetics Athetosis / complications Chorea / complications Epilepsy / complications Epilepsy / genetics Learning Disabilities / complications Mutation / genetics
article_metadata: 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
article_metadata: PMC3222643
article_metadata: 22132097
article_metadata: A novel mutation in the HSD17B10 gene of a 10-year-old boy with refractory epilepsy, choreoathetosis and learning disability
article_metadata: 2011