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 : 3-Methylglutaconic aciduria, a frequent but underrecognized finding in carbamoyl phosphate synthetase I deficiency - Rokicki_2017_Clin.Chim.Acta_471_95 |
Author(s) : Rokicki D , Pajdowska M , Trubicka J , Thong MK , Ciara E , Piekutowska-Abramczuk D , Pronicki M , Sikora R , Haidar R , Oltarzewski M , Jablonska E , Muthukumarasamy P , Sthaneswar P , Gan CS , Krajewska-Walasek M , Carrozzo R , Verrigni D , Semeraro M , Rizzo C , Taurisano R , Alhaddad B , Kovacs-Nagy R , Haack TB , Dionisi-Vici C , Pronicka E , Wortmann SB |
Ref : Clinica Chimica Acta , 471 :95 , 2017 |
Abstract : |
PubMedSearch : Rokicki_2017_Clin.Chim.Acta_471_95 |
PubMedID: 28526534 |
Title : Wolman disease associated with hemophagocytic lymphohistiocytosis: attempts for an explanation - Taurisano_2014_Eur.J.Pediatr_173_1391 |
Author(s) : Taurisano R , Maiorana A , De Benedetti F , Dionisi-Vici C , Boldrini R , Deodato F |
Ref : Eur J Pediatr , 173 :1391 , 2014 |
Abstract : |
PubMedSearch : Taurisano_2014_Eur.J.Pediatr_173_1391 |
PubMedID: 24844354 |