Associated Papers
Syndromic retinitis pigmentosa.
Karuntu JS et al.
Progress in Retinal and Eye Research, 2025
ASYMPTOMATIC RETINAL DYSFUNCTION AND RETINAL ABNORMALITIES IN A PATIENT WITH ALPHA-METHYLACYL-COA RACEMASE DEFICIENCY.
Kalogeropoulos D et al.
Retinal Cases & Brief Reports, 2025
Germline predisposition in multiple myeloma.
Martins Rodrigues F et al.
Iscience, 2025
Clinical utility of runs of homozygosity in the identification of genetic causes in individuals with rare diseases.
Sivakumaran TA et al.
Genetics in Medicine Open, 2025
α-Methylacyl-CoA Racemase Deficiency in a Patient with Ataxia, Spasticity, and Segmental Dystonia.
Rashedi R et al.
Movement Disorders Clinical Practice, 2024
Redefining the phenotype of alpha-methylacyl-CoA racemase (AMACR) deficiency.
Klouwer FCC et al.
Orphanet Journal of Rare Diseases, 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
Alpha-methyl acetyl-coA racemase deficiency. Magnetic resonance imaging findings of three patients with encephalopathy, epilepsy, and stroke-like episodes.
Palacio-Montoya MI et al.
The Neuroradiology Journal, 2024
Evaluating the strength of evidence for genes implicated in peroxisomal disorders using the ClinGen clinical validity framework and providing updates to the peroxisomal disease nomenclature.
Mohan S et al.
Molecular Genetics and Metabolism, 2023
Autoantibody Positivity in Two Bahraini Siblings With a Novel Alpha-Methylacyl-CoA Racemase Mutation.
Isa HM et al.
Cureus, 2023
Detection of germline variants with pathogenic potential in 48 patients with familial colorectal cancer by using whole exome sequencing.
Singh AK et al.
Bmc Medical Genomics, 2023
Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study.
Schon KR et al.
Bmj (clinical Research Ed.), 2021
Episodic hyperCKaemia may be a feature of α-methylacyl-coenzyme A racemase deficiency.
Krett B et al.
European Journal of Neurology, 2021
Asymptomatic retinal dysfunction in alpha-methylacyl-CoA racemase deficiency.
Alsalamah AK et al.
Molecular Vision, 2021
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
Alpha methyl acyl CoA racemase deficiency: Diagnosis with isolated elevated liver enzymes.
Gündüz M et al.
The Turkish Journal of Pediatrics, 2019
Whole Exome Sequencing Is the Preferred Strategy to Identify the Genetic Defect in Patients With a Probable or Possible Mitochondrial Cause.
Theunissen TEJ et al.
Frontiers in Genetics, 2018
MRI characterisation of adult onset alpha-methylacyl-coA racemase deficiency diagnosed by exome sequencing.
Haugarvoll K et al.
Orphanet Journal of Rare Diseases, 2013
An adult onset case of alpha-methyl-acyl-CoA racemase deficiency.
Smith EH et al.
Journal of Inherited Metabolic Disease, 2010
Non-synonymous variants in the AMACR gene are associated with schizophrenia.
Bespalova IN et al.
Schizophrenia Research, 2010
Peroxisomal disorders: the single peroxisomal enzyme deficiencies.
Wanders RJ et al.
Biochimica Et Biophysica Acta, 2006
Alpha-methylacyl-CoA racemase from Mycobacterium tuberculosis. Mutational and structural characterization of the active site and the fold.
Savolainen K et al.
The Journal of Biological Chemistry, 2005
Tremor and deep white matter changes in alpha-methylacyl-CoA racemase deficiency.
Clarke CE et al.
Neurology, 2004
Liver disease caused by failure to racemize trihydroxycholestanoic acid: gene mutation and effect of bile acid therapy.
Setchell KD et al.
Gastroenterology, 2003
Phenotypic variability (heterogeneity) of peroxisomal disorders.
Mandel H et al.
Advances in Experimental Medicine and Biology, 2003
Sequence variants of alpha-methylacyl-CoA racemase are associated with prostate cancer risk.
Zheng SL et al.
Cancer Research, 2002
Mutations in the gene encoding peroxisomal alpha-methylacyl-CoA racemase cause adult-onset sensory motor neuropathy.
Ferdinandusse S et al.
Nature Genetics, 2000