Lucchi T

Title : 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_2017_Atherosclerosis_265_124

Author(s) : Pisciotta L , Tozzi G , Travaglini L , Taurisano R , Lucchi T , Indolfi G , Papadia F , Di Rocco M , D'Antiga L , Crock P , Vora K , Nightingale S , Michelakakis H , Garoufi A , Lykopoulou L , Bertolini S , Calandra S

Ref : Atherosclerosis , 265 :124 , 2017

Abstract :

PubMedSearch : Pisciotta_2017_Atherosclerosis_265_124

PubMedID: 28881270

Gene_locus related to this paper: human-LIPA

Title : Clinical and genetic features of 3 patients with familial chylomicronemia due to mutations in GPIHBP1 gene - Rabacchi_2016_J.Clin.Lipidol_10_915

Author(s) : Rabacchi C , D'Addato S , Palmisano S , Lucchi T , Bertolini S , Calandra S , Tarugi P

Ref : J Clin Lipidol , 10 :915 , 2016

Abstract :

PubMedSearch : Rabacchi_2016_J.Clin.Lipidol_10_915

PubMedID: 27578123

Lucchi T

References (2)

1. 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_2017_Atherosclerosis_265_124

2. Clinical and genetic features of 3 patients with familial chylomicronemia due to mutations in GPIHBP1 gene - Rabacchi_2016_J.Clin.Lipidol_10_915