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Text
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<a href="http://doi.org/10.1007/s10545-006-0384-7" target="_blank" rel="noreferrer">http://doi.org/10.1007/s10545-006-0384-7</a>
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Title
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The natural history of Niemann-Pick disease type C in the UK
Publisher
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Journal Of Inherited Metabolic Disease
Date
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2007
Subject
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Child; Female; Humans; infant; Male; Great Britain; Adult; Middle Aged; adolescent; Preschool; infant; Models; Q3 Literature Search; Newborn; Genetic; Lipid Metabolism Disorders/diagnosis/metabolism; Lipids/chemistry; Niemann-Pick Disease; Type C/diagnosis/epidemiology
Creator
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Imrie J; Dasgupta S; Besley GT; Harris C; Heptinstall L; Knight S; Vanier MT; Fensom AH; Ward C; Jacklin E; Whitehouse C; Wraith JE
Description
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Niemann-Pick disease type C (NPC) is an autosomal recessive, neurovisceral lipid storage disorder. Mutations in two genes (NPC1 and NPC2) produce indistinguishable clinical phenotypes by biochemical mechanisms that have not yet been entirely clarified. The wide spectrum of clinical presentations of NPC includes hepatic and pulmonary disease as well as a range of neuropsychiatric disorders. Late-onset disease has been increasingly recognized as the biochemical diagnosis of NPC has been more widely applied in adult neurology clinics. The clinical presentation and follow-up of 94 patients with NPC is described, 58 of whom were still alive at the time this report was prepared. The age at diagnosis ranged from the prenatal period (with hydrops fetalis) up to 51 years. This review of NPC patients in the UK confirms the phenotypic variability of this inherited lipid storage disorder reported elsewhere. Although a non-neuronopathic variant has been described, most patients in this series who survived childhood inevitably suffered neurological and in some cases neuropsychiatric deterioration. While symptomatic treatment, such as anticholinergic and antiepileptic drugs, can alleviate some aspects of the disease, there is a clear need to develop a specific treatment for this progressively debilitating neurodegenerative disorder.
2007
Identifier
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<a href="http://doi.org/10.1007/s10545-006-0384-7" target="_blank" rel="noreferrer">10.1007/s10545-006-0384-7</a>
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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
2007
Adolescent
Adult
Backlog
Besley GT
Child
Dasgupta S
Female
Fensom AH
Genetic
Great Britain
Harris C
Heptinstall L
Humans
Imrie J
Infant
Jacklin E
Journal Article
Journal Of Inherited Metabolic Disease
Knight S
Lipid Metabolism Disorders/diagnosis/metabolism
Lipids/chemistry
Male
Middle Aged
Models
Newborn
Niemann-Pick Disease
Preschool
Q3 Scoping Review Results
Type C/diagnosis/epidemiology
Vanier MT
Ward C
Whitehouse C
Wraith JE