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INDOLFI , Giuseppe

Last name: INDOLFI

First name: Giuseppe

2020 (v1)

Publication

Metadata-only

Hepatitis C virus therapy in children: No one should be left behind

Indolfi, Giuseppe Giannini, Edoardo G

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Uploaded on: April 14, 2023
2017 (v1)

Publication

Metadata-only

Molecular and clinical characterization of a series of patients with childhood-onset lysosomal acid lipase deficiency. Retrospective investigations, follow-up and detection of two novel LIPA pathogenic variants

Pisciotta, Livia Tozzi, Giulia Travaglini, Lorena

Background and aims Childhood/Adult-onset Lysosomal Acid Lipase Deficiency (LAL-D) is a recessive disorder due to loss of function variants of LAL, the enzyme which hydrolyses cholesteryl esters, derived from internalized apoB containing lipoproteins. The disease is characterized by multi-organ involvement including the liver, spleen, intestine...

Uploaded on: April 14, 2023