Associated Papers
α-Methylacyl-CoA Racemase Deficiency in a Patient with Ataxia, Spasticity, and Segmental Dystonia.
Rashedi R et al.
Movement Disorders Clinical Practice, 2024
Variable clinical phenotypes of alpha-methylacyl-CoA racemase deficiency: Report of four cases and review of the literature.
Selamioğlu A et al.
Jimd Reports, 2024
Autoantibody Positivity in Two Bahraini Siblings With a Novel Alpha-Methylacyl-CoA Racemase Mutation.
Isa HM et al.
Cureus, 2023
Asymptomatic retinal dysfunction in alpha-methylacyl-CoA racemase deficiency.
Alsalamah AK et al.
Molecular Vision, 2021
Clinical Validation of Targeted and Untargeted Metabolomics Testing for Genetic Disorders: A 3 Year Comparative Study.
Almontashiri NAM et al.
Scientific Reports, 2020
32523032 (PubMed )
Supplement: 41598_2020_66401_MOESM3_ESM.xlsx › Table_S2
Mutation Spectrum and Birth Prevalence of Inborn Errors of Metabolism among Emiratis: A study from Tawam Hospital Metabolic Center, United Arab Emirates.
Al-Shamsi A et al.
Sultan Qaboos University Medical Journal, 2014
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