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| Title : Muscle MRI in neutral lipid storage disease (NLSD) - Garibaldi_2017_J.Neurol_264_1334 |
| Author(s) : Garibaldi M , Tasca G , Diaz-Manera J , Ottaviani P , Laschena F , Pantoli D , Gerevini S , Fiorillo C , Maggi L , Tasca E , D'Amico A , Musumeci O , Toscano A , Bruno C , Massa R , Angelini C , Bertini E , Antonini G , Pennisi EM |
| Ref : Journal of Neurology , 264 :1334 , 2017 |
| Abstract : Garibaldi_2017_J.Neurol_264_1334 |
| ESTHER : Garibaldi_2017_J.Neurol_264_1334 |
| PubMedSearch : Garibaldi_2017_J.Neurol_264_1334 |
| PubMedID: 28503705 |
| Title : Neutral Lipid Storage Diseases: clinical\/genetic features and natural history in a large cohort of Italian patients - Pennisi_2017_Orphanet.J.Rare.Dis_12_90 |
| Author(s) : Pennisi EM , Arca M , Bertini E , Bruno C , Cassandrini D , D'Amico A , Garibaldi M , Gragnani F , Maggi L , Massa R , Missaglia S , Morandi L , Musumeci O , Pegoraro E , Rastelli E , Santorelli FM , Tasca E , Tavian D , Toscano A , Angelini C |
| Ref : Orphanet J Rare Dis , 12 :90 , 2017 |
| Abstract : Pennisi_2017_Orphanet.J.Rare.Dis_12_90 |
| ESTHER : Pennisi_2017_Orphanet.J.Rare.Dis_12_90 |
| PubMedSearch : Pennisi_2017_Orphanet.J.Rare.Dis_12_90 |
| PubMedID: 28499397 |
| Title : Acitretin-responsive ichthyosis in Chanarin-Dorfman syndrome with a novel mutation in the ABHD5\/CGI-58 gene - Srinivasaraghavan_2014_Pediatr.Dermatol_31_612 |
| Author(s) : Srinivasaraghavan R , Krishnamurthy S , Chandar R , Cassandrini D , Mahadevan S , Bruno C , Santorelli FM |
| Ref : Pediatr Dermatol , 31 :612 , 2014 |
| Abstract : Srinivasaraghavan_2014_Pediatr.Dermatol_31_612 |
| ESTHER : Srinivasaraghavan_2014_Pediatr.Dermatol_31_612 |
| PubMedSearch : Srinivasaraghavan_2014_Pediatr.Dermatol_31_612 |
| PubMedID: 23756328 |
| Gene_locus related to this paper: human-ABHD5 |
| Title : Liver cirrhosis in an infant with Chanarin-Dorfman syndrome caused by a novel splice-site mutation in ABHD5 - Cakir_2010_Acta.Paediatr_99_1592 |
| Author(s) : Cakir M , Bruno C , Cansu A , Cobanoglu U , Erduran E |
| Ref : Acta Paediatr , 99 :1592 , 2010 |
| Abstract : Cakir_2010_Acta.Paediatr_99_1592 |
| ESTHER : Cakir_2010_Acta.Paediatr_99_1592 |
| PubMedSearch : Cakir_2010_Acta.Paediatr_99_1592 |
| PubMedID: 20528790 |
| Gene_locus related to this paper: human-ABHD5 |
| Title : Clinical and genetic characterization of Chanarin-Dorfman syndrome. - Bruno_2008_Biochem.Biophys.Res.Commun_369_1125 |
| Author(s) : Bruno C , Bertini E , Di Rocco M , Cassandrini D , Ruffa G , De Toni T , Seri M , Spada M , Li Volti G , D'Amico A , Trucco F , Arca M , Casali C , Angelini C , Dimauro S , Minetti C |
| Ref : Biochemical & Biophysical Research Communications , 369 :1125 , 2008 |
| Abstract : Bruno_2008_Biochem.Biophys.Res.Commun_369_1125 |
| ESTHER : Bruno_2008_Biochem.Biophys.Res.Commun_369_1125 |
| PubMedSearch : Bruno_2008_Biochem.Biophys.Res.Commun_369_1125 |
| PubMedID: 18339307 |
| Gene_locus related to this paper: human-ABHD5 |
| Title : Novel mutations in the adipose triglyceride lipase gene causing neutral lipid storage disease with myopathy - Campagna_2008_Biochem.Biophys.Res.Commun_377_843 |
| Author(s) : Campagna F , Nanni L , Quagliarini F , Pennisi E , Michailidis C , Pierelli F , Bruno C , Casali C , Dimauro S , Arca M |
| Ref : Biochemical & Biophysical Research Communications , 377 :843 , 2008 |
| Abstract : Campagna_2008_Biochem.Biophys.Res.Commun_377_843 |
| ESTHER : Campagna_2008_Biochem.Biophys.Res.Commun_377_843 |
| PubMedSearch : Campagna_2008_Biochem.Biophys.Res.Commun_377_843 |
| PubMedID: 18952067 |
| Title : Automated dibucaine number measurement with DuPont Dimension ES and AR analyzers - Holownia_1995_Clin.Chem_41_664 |
| Author(s) : Holownia P , Newman DJ , Bruno C , LaGamba P , Gerrits M , Salemink G , Ossani M , Price CP |
| Ref : Clinical Chemistry , 41 :664 , 1995 |
| Abstract : Holownia_1995_Clin.Chem_41_664 |
| ESTHER : Holownia_1995_Clin.Chem_41_664 |
| PubMedSearch : Holownia_1995_Clin.Chem_41_664 |
| PubMedID: 7729043 |