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 VPS33A gene. This syndrome presents with typical symptoms of mucopolysaccharidosis, as well as congenital heart defects, renal, and hematopoietic system disorders. To date, twenty-four pa...

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Detalles Bibliográficos
Autores principales: Faraguna, Martha Caterina, Musto, Francesca, Crescitelli, Viola, Iascone, Maria, Spaccini, Luigina, Tonduti, Davide, Fedeli, Tiziana, Kullmann, Gaia, Canonico, Francesco, Cattoni, Alessandro, Dell’Acqua, Fabiola, Rizzari, Carmelo, Gasperini, Serena
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8951474/
https://www.ncbi.nlm.nih.gov/pubmed/35327996
http://dx.doi.org/10.3390/genes13030442

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