| Title : Diagnosis, treatment, and follow-up of a case of Wolman disease with hemophagocytic lymphohistiocytosis - Baronio_2022_Mol.Genet.Metab.Rep_30_100833 |
| Author(s) : Baronio F , Conti F , Miniaci A , Carfagnini F , Di Natale V , Di Donato G , Testi M , Totaro C , De Fanti A , Boenzi S , Dionisi-Vici C , Esposito S , Pession A |
| Ref : Mol Genet Metab Rep , 30 :100833 , 2022 |
| Abstract : |
| PubMedSearch : Baronio_2022_Mol.Genet.Metab.Rep_30_100833 |
| PubMedID: 35242567 |
| 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 |
| Title : Novel CLN1 mutation in two Italian sibs with late infantile neuronal ceroid lipofuscinosis - Bonsignore_2006_Eur.J.Paediatr.Neurol_10_154 |
| Author(s) : Bonsignore M , Tessa A , Di Rosa G , Piemonte F , Dionisi-Vici C , Simonati A , Calamoneri F , Tortorella G , Santorelli FM |
| Ref : Eur J Paediatr Neurol , 10 :154 , 2006 |
| Abstract : |
| PubMedSearch : Bonsignore_2006_Eur.J.Paediatr.Neurol_10_154 |
| PubMedID: 16759889 |
| Gene_locus related to this paper: human-PPT1 |