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- W44013062 abstract "The mucopolysaccharidoses (MPS) are multisystemic inherited metabolic diseases caused by the deficiency of the enzymes involved in the degradation of glycosaminoglycans (GAGs), which variably involve the central nervous system, heart, lungs, and bones.Undegraded or only partly degraded GAGs accumulate in the extracellular matrix, joint fluid, and connective tissue leading to widespread tissue and organ dysfunction.The introduction of hematopoietic stem cell transplantation (HSCT) and enzyme replacement therapy (ERT) has positively affected the natural history of MPS patients and their life expectancy. However, the presence of spinal abnormalities and deposition of GAGs in soft tissues remains nearly unaltered.Abnormalities of the craniovertebral junction (CVJ) and GAG deposits can result in spinal cord compression with slowly progressive myelopathy or acute posttraumatic tetraplegia.The current paper discusses neuroimaging findings in a consecutive series of 42 MPS patients followed at our Center for Metabolic Diseases and their neurosurgical issues.Current recommendations for decompression and fusion will be discussed according to our experience and review of the literature." @default.
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- W44013062 date "2013-09-16" @default.
- W44013062 modified "2023-09-30" @default.
- W44013062 title "Craniovertebral Junction Pathological Features and Their Management in the Mucopolysaccharidoses" @default.
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- W44013062 doi "https://doi.org/10.1007/978-3-319-01065-6_11" @default.
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