D'Antiga L

Title : Lysosomal acid lipase deficiency manifestations in children and adults: Baseline data from an international registry - Balwani_2023_Liver.Int__

Author(s) : Balwani M , Balistreri W , D'Antiga L , Evans J , Ros E , Abel F , Wilson DP

Ref : Liver Int , : , 2023

Abstract :

PubMedSearch : Balwani_2023_Liver.Int__

PubMedID: 37222260

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

D'Antiga L

References (2)

1. Lysosomal acid lipase deficiency manifestations in children and adults: Baseline data from an international registry - Balwani_2023_Liver.Int__

2. 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