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Text
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URL Address
<a href="http://doi.org/10.1055/s-2007-973503" target="_blank" rel="noreferrer">http://doi.org/10.1055/s-2007-973503</a>
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Title
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Clinical and neuroradiological follow-up in mucopolysaccharidosis type III (Sanfilippo syndrome)
Publisher
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Neuropediatrics
Date
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1999
Subject
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Child; Female; Humans; Male; Disease Progression; Magnetic Resonance Imaging; Preschool; infant; Q3 Literature Search; Atrophy; Brain/abnormalities/pathology; Mental Retardation/etiology; Mucopolysaccharidosis III/pathology/physiopathology; Psychomotor Disorders/diagnosis/etiology
Creator
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Barone R; Nigro F; Triulzi F; Musumeci S; Fiumara A; Pavone L
Description
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Mucopolysaccharidosis type III (Sanfilippo syndrome) is an autosomal recessive disorder characterised by progressive nervous system involvement with mental retardation, behavioural problems and seizures. Three patients, of 20 months to 12 years of age, were followed up for 3 years both clinically and by using brain magnetic resonance imaging (MRI). Our results suggest that in MPS III patients MRI findings, including atrophy and abnormal or delayed myelination, may precede the onset of overt neurological symptoms. The increasing neurological morbidity is accompanied by different degrees of progressive atrophic changes, mainly affecting the cerebral cortex and the corpus callosum. However, it appears that, across subjects, the rate of MRI changes is unrelated to the severity of the clinical phenotype. On this basis it could be argued that in MPS III the worsening of the neurological symptoms might not necessarily reflect only the progressive cerebral abnormalities detectable by MRI.
1999
Identifier
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<a href="http://doi.org/10.1055/s-2007-973503" target="_blank" rel="noreferrer">10.1055/s-2007-973503</a>
Rights
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Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
Type
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Journal Article
1999
Atrophy
Backlog
Barone R
Brain/abnormalities/pathology
Child
Disease Progression
Female
Fiumara A
Humans
Infant
Journal Article
Magnetic Resonance Imaging
Male
Mental Retardation/etiology
Mucopolysaccharidosis III/pathology/physiopathology
Musumeci S
Neuropediatrics
Nigro F
Pavone L
Preschool
Psychomotor Disorders/diagnosis/etiology
Q3 Scoping Review Results
Triulzi F