| http://purl.uniprot.org/citations/25516103 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/25516103 | http://www.w3.org/2000/01/rdf-schema#comment | "Multiple Sulfatase Deficiency (MSD; OMIM 272200) is a rare autosomal recessive inborn error of metabolism caused by mutations in the sulfatase modifying factor 1 gene, encoding the formylglycine-generating enzyme (FGE), and resulting in tissue accumulation of sulfatides, sulphated glycosaminoglycans, sphingolipids and steroid sulfates. Less than 50 cases have been published so far. We report a new case of MSD presenting in the newborn period with hypotonia, apnoea, cyanosis and rolling eyes, hepato-splenomegaly and deafness. This patient was compound heterozygous for two so far undescribed SUMF1 mutations (c.191C > A; p.S64X and c.818A > G; p.D273G)."xsd:string |
| http://purl.uniprot.org/citations/25516103 | http://purl.org/dc/terms/identifier | "doi:10.1186/s13052-014-0086-2"xsd:string |
| http://purl.uniprot.org/citations/25516103 | http://purl.uniprot.org/core/author | "Ballabio A."xsd:string |
| http://purl.uniprot.org/citations/25516103 | http://purl.uniprot.org/core/author | "Superti-Furga A."xsd:string |
| http://purl.uniprot.org/citations/25516103 | http://purl.uniprot.org/core/author | "Santoro L."xsd:string |
| http://purl.uniprot.org/citations/25516103 | http://purl.uniprot.org/core/author | "Pepe S."xsd:string |
| http://purl.uniprot.org/citations/25516103 | http://purl.uniprot.org/core/author | "Garavelli L."xsd:string |
| http://purl.uniprot.org/citations/25516103 | http://purl.uniprot.org/core/author | "Gabrielli O."xsd:string |
| http://purl.uniprot.org/citations/25516103 | http://purl.uniprot.org/core/author | "Frattini D."xsd:string |
| http://purl.uniprot.org/citations/25516103 | http://purl.uniprot.org/core/author | "Bernasconi S."xsd:string |
| http://purl.uniprot.org/citations/25516103 | http://purl.uniprot.org/core/author | "Wischmeijer A."xsd:string |
| http://purl.uniprot.org/citations/25516103 | http://purl.uniprot.org/core/author | "Gelmini C."xsd:string |
| http://purl.uniprot.org/citations/25516103 | http://purl.uniprot.org/core/author | "Rosato S."xsd:string |
| http://purl.uniprot.org/citations/25516103 | http://purl.uniprot.org/core/author | "Iori A."xsd:string |
| http://purl.uniprot.org/citations/25516103 | http://purl.uniprot.org/core/author | "Iughetti L."xsd:string |
| http://purl.uniprot.org/citations/25516103 | http://purl.uniprot.org/core/author | "Gargano G."xsd:string |
| http://purl.uniprot.org/citations/25516103 | http://purl.uniprot.org/core/author | "Braibanti S."xsd:string |
| http://purl.uniprot.org/citations/25516103 | http://purl.uniprot.org/core/author | "Galeazzi T."xsd:string |
| http://purl.uniprot.org/citations/25516103 | http://purl.uniprot.org/core/author | "Ivanovski I."xsd:string |
| http://purl.uniprot.org/citations/25516103 | http://purl.uniprot.org/core/author | "Melli N."xsd:string |
| http://purl.uniprot.org/citations/25516103 | http://purl.uniprot.org/core/author | "Padella L."xsd:string |
| http://purl.uniprot.org/citations/25516103 | http://purl.uniprot.org/core/author | "Pedori S."xsd:string |
| http://purl.uniprot.org/citations/25516103 | http://purl.uniprot.org/core/author | "Zampini L."xsd:string |
| http://purl.uniprot.org/citations/25516103 | http://purl.uniprot.org/core/date | "2014"xsd:gYear |