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Hindi Journal of Genetic Disorders & Genetic ReportsISSN: 2327-5790
Giovanna Pasquariello Author
Subjects of specialization
Affiliation
Dominant inheritance
Departmental Section of Immune-mediated Nephropathies, AOUP, Pisa, Italy
Biography
Giovanna Pasquariello belongs to Departmental Section of Immune-mediated Nephropathies intrested in the field Lipoprotein glomerulopathy (LPG); APOE gene mutation; Dominant inheritance with incomplete penetrance; Glomerular lipoprotein thrombi; Hyperlipidemia from AOUP, Pisa, Italy
Publications
Research Article Open Access
Lipoprotein Glomerulopathy: Molecular Characterization of Three Italian Patients and Literature Survey
Author(s): Antonio Pasquariello, Livia Pisciotta, Tiziana Sampietro, Giovanna Pasquariello, Pellegrino Masiello, Matilde Masini, Francesco Sbrana, Mariarita Puntoni, Roberto Miccoli, Sebastiano Calandra and Stefano Bertolini
Lipoprotein Glomerulopathy: Molecular Characterization of Three Italian Patients and Literature Survey
Lipoprotein glomerulopathy (LPG) is a rare kidney disease, mainly reported in Asian subjects, linked with rare APOE gene mutations resulting in a structurally abnormal Apolipoprotein E (ApoE), the plasma accumulation of lipoprotein remnants and the formation of lipid thrombi in glomerular capillaries. This study reports the molecular characterization of three unrelated Italian patients with long standing LPG.
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