Associated Papers
Recurrent rhabdomyolysis caused by palmitoyltransferase II (CPT-2) deficiency but complete normal acylcarnitine profile: A patient presentation and review of the literature.
Lu CH et al.
Molecular Genetics and Metabolism Reports, 2024
Familial Acute Necrotizing Encephalopathy: Evidence From Next Generation Sequencing of Digenic Inheritance.
Iyer G et al.
Journal of Child Neurology, 2020
Dysregulation of neuron differentiation in an autistic savant with exceptional memory.
Song J et al.
Molecular Brain, 2019
31699123 (PubMed )
Supplement: 13041_2019_507_MOESM1_ESM.xlsx › SNPs_merged_1000g_deleterious
Increased missense mutation burden of Fatty Acid metabolism related genes in nunavik inuit population.
Zhou S et al.
Plos One, 2015
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