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Such children or adolescents present with failure to thrive, irritability, seizures, vomiting, ataxia and intellectual disabilities
A patient heterozygous for the L279R mutation developed severe chylomicronemia during pregnancy 61
doi: 10.1016/S0015-0282(02)03294-6 [DOI] [PubMed] [Google Scholar] 61
Because of alteration to the patient's appearance, patient education around alopecia and nail toxicities is crucial to help set expectations
