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| Title : Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy - Santorelli_2013_Orphanet.J.Rare.Dis_8_19 |
| Author(s) : Santorelli FM , Garavaglia B , Cardona F , Nardocci N , Bernardina BD , Sartori S , Suppiej A , Bertini E , Claps D , Battini R , Biancheri R , Filocamo M , Pezzini F , Simonati A |
| Ref : Orphanet J Rare Dis , 8 :19 , 2013 |
| Abstract : Santorelli_2013_Orphanet.J.Rare.Dis_8_19 |
| ESTHER : Santorelli_2013_Orphanet.J.Rare.Dis_8_19 |
| PubMedSearch : Santorelli_2013_Orphanet.J.Rare.Dis_8_19 |
| PubMedID: 23374165 |
| Gene_locus related to this paper: human-PPT1 |
| Title : Lysosomal lipase deficiency: molecular characterization of eleven patients with Wolman or cholesteryl ester storage disease - Fasano_2012_Mol.Genet.Metab_105_450 |
| Author(s) : Fasano T , Pisciotta L , Bocchi L , Guardamagna O , Assandro P , Rabacchi C , Zanoni P , Filocamo M , Bertolini S , Calandra S |
| Ref : Mol Genet Metab , 105 :450 , 2012 |
| Abstract : Fasano_2012_Mol.Genet.Metab_105_450 |
| ESTHER : Fasano_2012_Mol.Genet.Metab_105_450 |
| PubMedSearch : Fasano_2012_Mol.Genet.Metab_105_450 |
| PubMedID: 22227072 |
| Gene_locus related to this paper: human-LIPA |
| Title : Wolman disease and cholesteryl ester storage disease diagnosed by histological and ultrastructural examination of intestinal and liver biopsy - Boldrini_2004_Pathol.Res.Pract_200_231 |
| Author(s) : Boldrini R , Devito R , Biselli R , Filocamo M , Bosman C |
| Ref : Pathol Res Pract , 200 :231 , 2004 |
| Abstract : Boldrini_2004_Pathol.Res.Pract_200_231 |
| ESTHER : Boldrini_2004_Pathol.Res.Pract_200_231 |
| PubMedSearch : Boldrini_2004_Pathol.Res.Pract_200_231 |
| PubMedID: 15200275 |