Multiple sulfatase deficiency with neonatal manifestation

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...

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Detalles Bibliográficos
Publicado en:Ital J Pediatr
Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado: BioMed Central 2014
Assuntos:
Case Report
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC4299397/
https://ncbi.nlm.nih.gov/pubmed/25516103
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13052-014-0086-2
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