Page last updated: 2024-09-04

alpha-methyl-beta-hydroxybutyrate and Mental Retardation, X-Linked

alpha-methyl-beta-hydroxybutyrate has been researched along with Mental Retardation, X-Linked in 1 studies

Research

Studies (1)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's0 (0.00)18.2507
2000's0 (0.00)29.6817
2010's1 (100.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Akiba, K; Aoyama, Y; Fukao, T; Goto, M; Hasegawa, Y; Hashimoto, T; Hori, T; Kuwayama, N; Morita, M; Moriyama, Y; Murayama, K; Ohtake, A; Shigematsu, Y; Usuda, N; Venkatesan, R; Wierenga, R1

Other Studies

1 other study(ies) available for alpha-methyl-beta-hydroxybutyrate and Mental Retardation, X-Linked

ArticleYear
The first case in Asia of 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency (HSD10 disease) with atypical presentation.
    Journal of human genetics, 2014, Volume: 59, Issue:11

    Topics: 3-Hydroxyacyl CoA Dehydrogenases; Acetyl-CoA C-Acetyltransferase; Base Sequence; Carnitine; Child; Diagnosis, Differential; DNA Mutational Analysis; Dyskinesias; Fibroblasts; Glycine; Humans; Hydroxybutyrates; Immunoblotting; Lipid Metabolism, Inborn Errors; Male; Mental Retardation, X-Linked; Mitochondria; Models, Molecular; Point Mutation; Protein Structure, Tertiary

2014