Article
Multiple sulfatase deficiency with neonatal manifestation.
Italian journal of pediatrics - 17 Dec 2014
Garavelli Livia, Santoro Lucia, Iori Alexandra, Gargano Giancarlo, Braibanti Silvia, Pedori Simona, Melli Nives, Frattini Daniele, Zampini Lucia, Galeazzi Tiziana, Padella Lucia, Pepe Stefano, Wischmeijer Anita, Rosato Simonetta, Ivanovski Ivan, Iughetti Lorenzo, Gelmini Chiara, Bernasconi Sergio, Superti-Furga Andrea, Ballabio Andrea, Gabrielli Orazio
Abstract excerpt
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...
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