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Description

Age (Dordr)

Gianfrilli y Lauretta 2012

108 SalamoneJ

Diagnosis and treatment When molecular genetic testing is not definitive, the diagnosis of CPT1A is confirmed in a proband by the discovery of biallelic pathogenic mutations in CPT1A on molecular genetic testing or decreased carnitine palmitoyltransferase 1 (CPT 1) enzyme activity on cultured skin fibroblasts