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40
4
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Text
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URL Address
<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>
Dublin Core
The Dublin Core metadata element set is common to all Omeka records, including items, files, and collections. For more information see, http://dublincore.org/documents/dces/.
Title
A name given to the resource
The natural history of Niemann-Pick disease type C in the UK
Publisher
An entity responsible for making the resource available
Journal Of Inherited Metabolic Disease
Date
A point or period of time associated with an event in the lifecycle of the resource
2007
Subject
The topic of the resource
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
An entity primarily responsible for making the resource
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
An account of the resource
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
An unambiguous reference to the resource within a given context
<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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Information about rights held in and over the resource
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
The nature or genre of the resource
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
-
Text
A resource consisting primarily of words for reading. Examples include books, letters, dissertations, poems, newspapers, articles, archives of mailing lists. Note that facsimiles or images of texts are still of the genre Text.
Citation List Month
Backlog
URL Address
<a href="http://doi.org/10.1016/S1474-4422(07)70194-1" target="_blank" rel="noreferrer">http://doi.org/10.1016/S1474-4422(07)70194-1</a>
Dublin Core
The Dublin Core metadata element set is common to all Omeka records, including items, files, and collections. For more information see, http://dublincore.org/documents/dces/.
Title
A name given to the resource
Miglustat for treatment of Niemann-Pick C disease: a randomised controlled study
Publisher
An entity responsible for making the resource available
Lancet Neurology
Date
A point or period of time associated with an event in the lifecycle of the resource
2007
Subject
The topic of the resource
Child; Female; Humans; Male; Cohort Studies; Adult; Age Factors; Severity of Illness Index; Analysis of Variance; Double-Blind Method; Drug Administration Schedule; adolescent; Preschool; Q3 Literature Search; retrospective studies; Niemann-Pick Disease; 1-Deoxynojirimycin/analogs & derivatives/therapeutic use; Deglutition/drug effects; Enzyme Inhibitors/therapeutic use; Saccades/drug effects; Type C/drug therapy/physiopathology
Creator
An entity primarily responsible for making the resource
Patterson MC; Vecchio D; Prady H; Abel L; Wraith JE
Description
An account of the resource
BACKGROUND: Niemann-Pick type C disease (NPC) is an inherited neurodegenerative disorder characterised by an intracellular lipid-trafficking defect with secondary accumulation of glycosphingolipids. Miglustat, a small iminosugar, reversibly inhibits glucosylceramide synthase, which catalyses the first committed step of glycosphingolipid synthesis. Miglustat is able to cross the blood-brain barrier, and is thus a potential therapy for neurological diseases. We aimed to establish the effect of miglustat on several markers of NPC severity. METHODS: Patients aged 12 years or older who had NPC (n=29) were randomly assigned to receive either miglustat 200 mg three times a day (n=20) or standard care (n=9) for 12 months. 12 children younger than 12 years of age were included in an additional cohort; all received miglustat at a dose adjusted for body surface area. All participants were then treated with miglustat for an additional year in an extension study. The primary endpoint was horizontal saccadic eye movement (HSEM) velocity, based on its correlation with disease progression. This study is registered as an International Standard Randomised Controlled Trial, number ISRCTN26761144. FINDINGS: At 12 months, HSEM velocity had improved in patients treated with miglustat versus those receiving standard care; results were significant when patients taking benzodiazepines were excluded (p=0.028). Children showed an improvement in HSEM velocity of similar size at 12 months. Improvement in swallowing capacity, stable auditory acuity, and a slower deterioration in ambulatory index were also seen in treated patients older than 12 years. The safety and tolerability of miglustat 200 mg three times a day in study participants was consistent with previous trials in type I Gaucher disease, where half this dose was used. INTERPRETATION: Miglustat improves or stabilises several clinically relevant markers of NPC. This is the first agent studied in NPC for which there is both animal and clinical data supporting a disease modifying benefit.
2007
Identifier
An unambiguous reference to the resource within a given context
<a href="http://doi.org/10.1016/S1474-4422(07)70194-1" target="_blank" rel="noreferrer">10.1016/S1474-4422(07)70194-1</a>
Rights
Information about rights held in and over the resource
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
The nature or genre of the resource
Journal Article
1-Deoxynojirimycin/analogs & derivatives/therapeutic use
2007
Abel L
Adolescent
Adult
Age Factors
Analysis of Variance
Backlog
Child
Cohort Studies
Deglutition/drug effects
Double-Blind Method
Drug Administration Schedule
Enzyme Inhibitors/therapeutic use
Female
Humans
Journal Article
Lancet Neurology
Male
Niemann-Pick Disease
Patterson MC
Prady H
Preschool
Q3 Scoping Review Results
Retrospective Studies
Saccades/drug effects
Severity Of Illness Index
Type C/drug therapy/physiopathology
Vecchio D
Wraith JE
-
Text
A resource consisting primarily of words for reading. Examples include books, letters, dissertations, poems, newspapers, articles, archives of mailing lists. Note that facsimiles or images of texts are still of the genre Text.
Citation List Month
Backlog
URL Address
<a href="http://doi.org/10.1136/adc.2004.065482" target="_blank" rel="noreferrer">http://doi.org/10.1136/adc.2004.065482</a>
Dublin Core
The Dublin Core metadata element set is common to all Omeka records, including items, files, and collections. For more information see, http://dublincore.org/documents/dces/.
Title
A name given to the resource
Sleep disturbance in Sanfilippo syndrome: a parental questionnaire study
Publisher
An entity responsible for making the resource available
Archives Of Disease In Childhood
Date
A point or period of time associated with an event in the lifecycle of the resource
2005
Subject
The topic of the resource
Child; Humans; infant; Adult; Questionnaires; Treatment Outcome; Incidence; Behavior Therapy; adolescent; Preschool; infant; Q3 Literature Search; Newborn; Age of Onset; Melatonin/therapeutic use; Mucopolysaccharidosis III/psychology; Sleep Disorders/epidemiology/etiology/therapy
Creator
An entity primarily responsible for making the resource
Fraser J; Gason AA; Wraith JE; Delatycki MB
Description
An account of the resource
AIMS: To determine the incidence, manifestations, and best management of sleep disturbance in Sanfilippo syndrome (mucopolysaccharidosis (MPS) type III). METHODS: Families were ascertained through the MPS societies of Australasia, the UK, and the USA. Questionnaires were sent by mail and were answered anonymously. Identical questions regarding sleep disturbance were asked about unaffected siblings to provide control data. Sleep disturbance was quantified by a total sleep disturbance score. RESULTS: A total of 141 responses were received; 91.5% of children with Sanfilippo syndrome had sleep disturbance and this was significantly higher than for their unaffected sibs; 77.5% of parents had used medication for this problem, with melatonin and antihistamines being most commonly used. Melatonin and benzodiazepines were reported as the most efficacious. Many different environmental modifications had been employed for this problem and some parents reported success with behavioural therapies. CONCLUSIONS: Sleep disturbance is common, severe, and difficult to manage in Sanfilippo syndrome. Based on the parental responses and its safety profile, melatonin is the first line drug that should be tried. Behavioural therapy should be tried in all with Sanfilippo syndrome and sleep disturbance.
2005
Identifier
An unambiguous reference to the resource within a given context
<a href="http://doi.org/10.1136/adc.2004.065482" target="_blank" rel="noreferrer">10.1136/adc.2004.065482</a>
Rights
Information about rights held in and over the resource
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
The nature or genre of the resource
Journal Article
2005
Adolescent
Adult
Age of Onset
Archives of Disease in Childhood
Backlog
Behavior Therapy
Child
Delatycki MB
Fraser J
Gason AA
Humans
Incidence
Infant
Journal Article
Melatonin/therapeutic use
Mucopolysaccharidosis III/psychology
Newborn
Preschool
Q3 Scoping Review Results
Questionnaires
Sleep Disorders/epidemiology/etiology/therapy
Treatment Outcome
Wraith JE
-
Text
A resource consisting primarily of words for reading. Examples include books, letters, dissertations, poems, newspapers, articles, archives of mailing lists. Note that facsimiles or images of texts are still of the genre Text.
Citation List Month
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URL Address
<a href="http://doi.org/10.1034/j.1399-0004.2002.620512.x" target="_blank" rel="noreferrer">http://doi.org/10.1034/j.1399-0004.2002.620512.x</a>
Dublin Core
The Dublin Core metadata element set is common to all Omeka records, including items, files, and collections. For more information see, http://dublincore.org/documents/dces/.
Title
A name given to the resource
Sleep disturbance in mucopolysaccharidosis type III (Sanfilippo syndrome): a survey of managing clinicians.
Publisher
An entity responsible for making the resource available
Clinical Genetics
Date
A point or period of time associated with an event in the lifecycle of the resource
2002
Subject
The topic of the resource
Humans; Data Collection; Physicians; Behavior Therapy; Mucopolysaccharidosis III/complications; Sleep Disorders/complications; Sleep Disorders/drug therapy; Sleep Disorders/therapy
Creator
An entity primarily responsible for making the resource
Fraser J; Wraith JE; Delatycki MB
Description
An account of the resource
Sanfilippo syndrome (mucopolysaccharidosis type III) is the commonest mucoploysaccharidosis. It causes neurodegeneration with often profound sleep and behavioral disturbance. Management of the sleep disturbance is difficult and inconsistent. In this study, we surveyed clinicians with particular expertise in the management of individuals with mucopolysaccharidoses. We found that sleep problems are almost universal in this patient population and that no one treatment is consistently viewed as beneficial. Among the clinicians surveyed, melatonin is reported as the medication most likely to be of benefit. Benzodiazepines, chloral hydrate, antihistamines and antipsychotic agents are overall reported as less efficacious. The major side-effect of the medications as a group was reported to be daytime somnolence. Based on this study, recommendations are given regarding the approach to sleep disturbance in Sanfilippo syndrome.
2002
Identifier
An unambiguous reference to the resource within a given context
<a href="http://doi.org/10.1034/j.1399-0004.2002.620512.x" target="_blank" rel="noreferrer">10.1034/j.1399-0004.2002.620512.x</a>
Rights
Information about rights held in and over the resource
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
The nature or genre of the resource
Journal Article
2002
Backlog
Behavior Therapy
Clinical Genetics
Data Collection
Delatycki MB
Fraser J
Humans
Journal Article
Mucopolysaccharidosis III/complications
Physicians
Sleep Disorders/complications
Sleep Disorders/drug therapy
Sleep Disorders/therapy
Wraith JE