2016
DOI: 10.1136/jmedgenet-2015-103322
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Clinical course of sly syndrome (mucopolysaccharidosis type VII)

Abstract: BackgroundMucopolysaccharidosis VII (MPS VII) is an ultra-rare disease characterised by the deficiency of β-glucuronidase (GUS). Patients’ phenotypes vary from severe forms with hydrops fetalis, skeletal dysplasia and mental retardation to milder forms with fewer manifestations and mild skeletal abnormalities. Accurate assessments on the frequency and clinical characteristics of the disease have been scarce. The aim of this study was to collect such data.MethodsWe have conducted a survey of physicians to docum… Show more

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Cited by 144 publications
(226 citation statements)
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References 66 publications
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“…Our patient represents a new instance of MPS VII brought under allogeneic HSCT. The case was briefly reported as part of the survey study published by Montaño et al, and here, we describe the evolution after HSCT that was missing in that report. The child underwent a second transplantation due to the rejection of the graft, probably due to the reduced‐intensity conditioning used.…”
Section: Discussionmentioning
confidence: 86%
See 1 more Smart Citation
“…Our patient represents a new instance of MPS VII brought under allogeneic HSCT. The case was briefly reported as part of the survey study published by Montaño et al, and here, we describe the evolution after HSCT that was missing in that report. The child underwent a second transplantation due to the rejection of the graft, probably due to the reduced‐intensity conditioning used.…”
Section: Discussionmentioning
confidence: 86%
“…The enzyme is encoded by GUSB gene located in 7q11.21. To date, 49 mutations have been reported in MPS VII patients . Dwarfism, skeletal deformities, visceromegaly and neurocognitive alterations are the most important clinical features …”
Section: Introductionmentioning
confidence: 99%
“…This patient had severe kypho-scoliotic deformity at the time-of-death. Failures of ossification in the anterior-superior regions of the vertebrae at the thoracolumbar junction have been associated with progressive deformity in MPS I and VII patients [126, 127]. …”
Section: Pathophysiology Of Spine Disease In Mpsmentioning
confidence: 99%
“…MPS patients require surgical correction of spinal deformity at an average age of 5–8 years [126, 172, 173]. The prevalence of surgical intervention for MPS patients is around 15–20% [126, 127]. The overall prevalence of spinal surgery for MPS patients is expected to increase as systemic therapies (described below) increase life expectancy, but as expected for any surgical patient with significant comorbidities, spinal surgery has a high complication rate in MPS patients [172].…”
Section: Treating the Spinal Manifestations Of Mps: Current And Fumentioning
confidence: 99%
“…Its incidence is estimated between 1 : 300.000 and 1 : 2.000.000 [3] depending on race, ethnicity, and other factors. This rare form of inborn errors of metabolism results from deficiency in the lysosomal enzyme beta-glucuronidase [4].…”
Section: Introductionmentioning
confidence: 99%