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 recessive disorder characterized by high plasma levels of cholesterol and plant sterols due to mutations in the ABCG5 or the ABCG8 gene, leading to a loss of function of the ATP-binding cassette (ABC) heterodimer transporter G5-G8.

Timely diagnosis of sitosterolemia by next generation sequencing in two children with severe hypercholesterolemia / Buonuomo, Paola Sabrina; Iughetti, Lorenzo; Pisciotta, Livia; Rabacchi, Claudio; Papadia, Francesco; Bruzzi, Patrizia; Tummolo, Albina; Bartuli, Andrea; Cortese, Claudio; Bertolini, Stefano; Calandra, Sebastiano. - In: ATHEROSCLEROSIS. - ISSN 0021-9150. - 262:(2017), pp. 71-77. [10.1016/j.atherosclerosis.2017.05.002]

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

IUGHETTI, Lorenzo;RABACCHI, CLAUDIO;BRUZZI, Patrizia;
2017

Abstract

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 recessive disorder characterized by high plasma levels of cholesterol and plant sterols due to mutations in the ABCG5 or the ABCG8 gene, leading to a loss of function of the ATP-binding cassette (ABC) heterodimer transporter G5-G8.
2017
4-mag-2017
262
71
77
Timely diagnosis of sitosterolemia by next generation sequencing in two children with severe hypercholesterolemia / Buonuomo, Paola Sabrina; Iughetti, Lorenzo; Pisciotta, Livia; Rabacchi, Claudio; Papadia, Francesco; Bruzzi, Patrizia; Tummolo, Albina; Bartuli, Andrea; Cortese, Claudio; Bertolini, Stefano; Calandra, Sebastiano. - In: ATHEROSCLEROSIS. - ISSN 0021-9150. - 262:(2017), pp. 71-77. [10.1016/j.atherosclerosis.2017.05.002]
Buonuomo, Paola Sabrina; Iughetti, Lorenzo; Pisciotta, Livia; Rabacchi, Claudio; Papadia, Francesco; Bruzzi, Patrizia; Tummolo, Albina; Bartuli, Andre...espandi
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11380/1136086
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