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CORTESE , Claudio

Last name: CORTESE

First name: Claudio

2017 (v1)

Publication

Metadata-only

Timely diagnosis of sitosterolemia by next generation sequencing in two children with severe hypercholesterolemia

Buonuomo, Paola Sabrina Iughetti, Lorenzo PISCIOTTA, LIVIA

Background and aims Severe hypercholesterolemia associated or not with xanthomas in a child may suggest the diagnosis of homozygous autosomal dominant hypercholesterolemia (ADH), autosomal recessive hypercholesterolemia (ARH) or sitosterolemia, depending on the transmission of hypercholesterolemia in the patient's family. Sitosterolemia is a...

Uploaded on: April 14, 2023