17-Beta-Hydroxysteroid Dehydrogenase X Deficiency
Author:
Publisher
Springer International Publishing
Link
https://link.springer.com/content/pdf/10.1007/978-3-319-66816-1_1717-1
Reference6 articles.
1. Chatfield KC et al (2015) Mitochondrial energy failure in HSD10 disease is due to defective mtDNA transcript processing. Mitochondrion 21:1–10. https://doi.org/10.1016/j.mito.2014.12.005
2. He XY, Schulz H, Yang SY (1998) A human brain L-3-hydroxyacyl-coenzyme A dehydrogenase is identical to an amyloid beta-peptide-binding protein involved in Alzheimer’s disease. J Biol Chem 273:10741–10746. https://doi.org/10.1074/jbc.273.17.10741
3. He X-Y, Merz G, Yang Y-Z, Mehta P, Schulz H, Yang S-Y (2001) Characterization and localization of human type10 17β-hydroxysteroid dehydrogenase. Eur J Biochem 268:4899–4907
4. Upadia J et al (2021) HSD10 disease in a female: a case report and review of literature. JIMD Rep 62:35–43. https://doi.org/10.1002/jmd2.12250
5. Zschocke J (2012) HSD10 disease: clinical consequences of mutations in the HSD17B10 gene. J Inherit Metab Dis 35:81–89. https://doi.org/10.1007/s10545-011-9415-4
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