Associated Papers
A Case of 17β-Hydroxysteroid Dehydrogenase Type 10 (HSD10) Disease Caused by a Novel Variant Presenting With Rapidly Progressive Cardiomyopathy Triggered by Viral Infection.
Kubo R et al.
Cureus, 2025
A novel c.59 C > T variant of the HSD17B10 gene as a possible cause of the neonatal form of HSD10 mitochondrial disease with hepatic dysfunction: a case report and review of the literature.
Jiang T et al.
Orphanet Journal of Rare Diseases, 2025
ost in promiscuity? An evolutionary and biochemical evaluation of HSD10 function in cardiolipin metabolism.
Wohlfarter Y et al.
Cellular and Molecular Life Sciences : Cmls, 2022
HSD10 disease in a female: A case report and review of literature.
Upadia J et al.
Jimd Reports, 2021
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
Clinical and molecular analysis of 6 Chinese patients with isoleucine metabolism defects: identification of 3 novel mutations in the HSD17B10 and ACAT1 gene.
Su L et al.
Metabolic Brain Disease, 2017
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
Hydroxysteroid 17-Beta Dehydrogenase Type 10 Disease in Siblings.
Richardson A et al.
Jimd Reports, 2017
Japanese Male Siblings with 2-Methyl-3-Hydroxybutyryl-CoA Dehydrogenase Deficiency (HSD10 Disease) Without Neurological Regression.
Akagawa S et al.
Jimd Reports, 2017
A novel HSD17B10 mutation impairing the activities of the mitochondrial RNase P complex causes X-linked intractable epilepsy and neurodevelopmental regression.
Falk MJ et al.
Rna Biology, 2016
Molecular insights into HSD10 disease: impact of SDR5C1 mutations on the human mitochondrial RNase P complex.
Vilardo E et al.
Nucleic Acids Research, 2015
Molecular insights into HSD10 disease: impact of SDR5C1 mutations on the human mitochondrial RNase P complex.
Vilardo E et al.
Nucleic Acids Research, 2015
Mutation or knock-down of 17β-hydroxysteroid dehydrogenase type 10 cause loss of MRPP1 and impaired processing of mitochondrial heavy strand transcripts.
Deutschmann AJ et al.
Human Molecular Genetics, 2014
HSD10 disease: clinical consequences of mutations in the HSD17B10 gene.
Zschocke J
Journal of Inherited Metabolic Disease, 2012
Study of patients and carriers with 2-methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency: difficulties in the diagnosis.
García-Villoria J et al.
Clinical Biochemistry, 2009
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