Mucopolysaccharidosis-Plus Syndrome, a Rapidly Progressive Disease: Favorable Impact of a Very Prolonged Steroid Treatment on the Clinical Course in a Child

Mucopolysaccharidosis-Plus Syndrome, a Rapidly Progressive Disease: Favorable Impact of a Very Prolonged Steroid Treatment on the Clinical Course in a Child

Mucopolysaccharidosis-plus syndrome (MPS-PS) is a novel autosomal recessive disorder caused by a mutation in the <i>VPS33A</i> gene. This syndrome presents with typical symptoms of mucopolysaccharidosis, as well as congenital heart defects, renal, and hematopoietic system disorders. To d...

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Bibliographic Details
Main Authors: Martha Caterina Faraguna, Francesca Musto, Viola Crescitelli, Maria Iascone, Luigina Spaccini, Davide Tonduti, Tiziana Fedeli, Gaia Kullmann, Francesco Canonico, Alessandro Cattoni, Fabiola Dell’Acqua, Carmelo Rizzari, Serena Gasperini
Format: Article
Language:English
Published: MDPI AG 2022-02-01
Series:Genes
Subjects:
mucopolysaccharidosis-plus
lysosomal storage disease
secondary hemophagocytic lymphohistiocytosis
leukoencephalopathy
Online Access:https://www.mdpi.com/2073-4425/13/3/442

Internet

https://www.mdpi.com/2073-4425/13/3/442

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