Congrats @FraMagrinelli for such a nice presentation on AMACR deficiency! #MDSCongress #Peroxisomal movement disorders #Pristanicacid https://t.co/aGiCqzKzA3
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Two exceedingly rare peroxisomal disorders considered in two adult siblings presenting tremor around 40 years of age. Diagnosis of AMACR deficiency made though combination of biochemical, genetic and enzymatic studies. https://t.co/WH19sTf2Md #BIMDG18
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MRI characterisation of adult onset alpha-methylacyl-coA racemase deficiency diagnosed by exome sequencing http://t.co/BIu9OiER #ENARM
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MRI characterisation of adult onset alpha-methylacyl-coA racemase deficiency diagnosed by exome sequencing http://t.co/SQ9ZNpKg