Associated Papers
A rare case of fatty acyl-CoA reductase 1 deficiency in an Indian infant manifesting rhizomelic chondrodystrophy phenotype.
Radha Rama Devi A et al.
Clinical Genetics, 2021
The many faces of peroxisomal disorders: Lessons from a large Arab cohort.
Alshenaifi J et al.
Clinical Genetics, 2019
A peroxisomal disorder of severe intellectual disability, epilepsy, and cataracts due to fatty acyl-CoA reductase 1 deficiency.
Buchert R et al.
American Journal of Human Genetics, 2014
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