Associated Papers
Infantile Neurodegeneration Results from Mutants of 17β-Hydroxysteroid Dehydrogenase Type 10 Rather Than Aβ-Binding Alcohol Dehydrogenase.
He XY et al.
International Journal of Molecular Sciences, 2023
HSD10 mitochondrial disease: p.Leu122Val variant, mild clinical phenotype, and founder effect in French-Canadian patients from Quebec.
Waters PJ et al.
Molecular Genetics & Genomic Medicine, 2019
31654490 (PubMed )
Supplement: MGG3-7-e1000-s002.docx
Neurocognitive assessments and long-term outcome in an adult with 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency.
Stepien KM et al.
Molecular Genetics and Metabolism Reports, 2018
Novel patient missense mutations in the HSD17B10 gene affect dehydrogenase and mitochondrial tRNA modification functions of the encoded protein.
Oerum S et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2017
Japanese Male Siblings with 2-Methyl-3-Hydroxybutyryl-CoA Dehydrogenase Deficiency (HSD10 Disease) Without Neurological Regression.
Akagawa S et al.
Jimd Reports, 2017
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