Hydroxysteroid (17β) dehydrogenase X in human health and disease
Author:
Funder
New York State Office for People with Developmental Disabilities
Publisher
Elsevier BV
Subject
Endocrinology,Molecular Biology,Biochemistry
Reference55 articles.
1. Protein expression of BACE1, BACE2 and APP in Down syndrome brains;Cheon;Amino Acids,2008
2. Clinical variability in 3-hydroxy-2-methylbutyryl-CoA dehydrogenase deficiency;Ensenauer;Annals of Neurology,2002
3. Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation;Froyen;American Journal of Human Genetics,2008
4. Study of patients and carriers with 2-methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency: difficulties in the diagnosis;García-Villoria;Clinical Biochemistry,2009
5. X-inactivation of HSD17B10 revealed by cDNA analysis in two female patients with 17β-hydroxysteoid dehydrogenase 10 deficiency;Garcia-Villoria;European Journal of Human Genetics,2010
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2. Involvement of Type 10 17β-Hydroxysteroid Dehydrogenase in the Pathogenesis of Infantile Neurodegeneration and Alzheimer’s Disease;International Journal of Molecular Sciences;2023-12-18
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