(Q38237207)

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Health economic evaluation of plasma oxysterol screening in the diagnosis of Niemann-Pick Type C disease among intellectually disabled using discrete event simulation.

scientific article published on 15 July 2014

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12 March 2020

Health economic evaluation of plasma oxysterol screening in the diagnosis of Niemann-Pick Type C disease among intellectually disabled using discrete event simulation (English)

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12 March 2020

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Graham Sinclair

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12 March 2020

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Clara D M van Karnebeek

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12 March 2020

Tima Mohammadi

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12 March 2020

Nicole Tsao

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12 March 2020

Sandra Sirrs

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12 March 2020

Sylvia Stockler

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12 March 2020

Carlo Marra

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12 March 2020

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15 July 2014

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12 March 2020

Molecular Genetics and Metabolism

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12 March 2020

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12 March 2020

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12 March 2020

226-232

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12 March 2020

Recommendations on the diagnosis and management of Niemann-Pick disease type C.

1 reference

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7 January 2021

Recommendations for the diagnosis and management of Niemann-Pick disease type C: an update

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.07.004

7 January 2021

Miglustat for treatment of Niemann-Pick C disease: a randomised controlled study

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.07.004

7 January 2021

Miglustat in adult and juvenile patients with Niemann-Pick disease type C: long-term data from a clinical trial

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.07.004

7 January 2021

Miglustat in patients with Niemann-Pick disease Type C (NP-C): a multicenter observational retrospective cohort study

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.07.004

7 January 2021

Long-term miglustat therapy in children with Niemann-Pick disease type C.

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.07.004

7 January 2021

The natural history of Niemann-Pick disease type C in the UK.

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.07.004

7 January 2021

Genetic basis of intellectual disability

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.07.004

7 January 2021

The adult form of Niemann-Pick disease type C.

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.07.004

7 January 2021

Niemann-Pick type C: a disorder of cellular cholesterol trafficking

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.07.004

7 January 2021

A sensitive and specific LC-MS/MS method for rapid diagnosis of Niemann-Pick C1 disease from human plasma

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.07.004

7 January 2021

Genetic screening for Niemann-Pick disease type C in adults with neurological and psychiatric symptoms: findings from the ZOOM study

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.07.004

7 January 2021

The metabolic evaluation of the child with an intellectual developmental disorder: diagnostic algorithm for identification of treatable causes and new digital resource

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.07.004

7 January 2021

The treatable intellectual disability APP www.treatable-id.org: a digital tool to enhance diagnosis & care for rare diseases.

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.07.004

7 January 2021

Evidence report: Genetic and metabolic testing on children with global developmental delay: report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society.

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.07.004

7 January 2021

Pharmacoeconomic analyses using discrete event simulation.

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.07.004

7 January 2021

Etiology of mental retardation in children referred to a tertiary care center: a prospective study.

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.07.004

7 January 2021

Development of a suspicion index to aid diagnosis of Niemann-Pick disease type C.

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.07.004

7 January 2021

Cost of illness associated with Niemann-Pick disease type C in the UK.

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.07.004

7 January 2021

How much does intellectual disability really cost? First estimates for Australia.

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.07.004

7 January 2021

The effectiveness and cost-effectiveness of enzyme and substrate replacement therapies: a longitudinal cohort study of people with lysosomal storage disorders.

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.07.004

7 January 2021

Mapping for economic evaluation

1 reference

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7 January 2021

Dysphagia as a risk factor for mortality in Niemann-Pick disease type C: systematic literature review and evidence from studies with miglustat

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.07.004

7 January 2021

Clinical experience with miglustat therapy in pediatric patients with Niemann-Pick disease type C: a case series

1 reference

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7 January 2021

Niemann-Pick disease type C.

1 reference

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7 January 2021

The frequency of lysosomal storage diseases in The Netherlands.

1 reference

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7 January 2021

Prevalence of lysosomal storage disorders

1 reference

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7 January 2021

Prevalence of lysosomal storage diseases in Portugal

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.07.004

7 January 2021

The National Niemann-Pick C1 disease database: report of clinical features and health problems.

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.07.004

7 January 2021

Effects of cyclodextrin in two patients with Niemann-Pick Type C disease

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.07.004

7 January 2021

New agents and approaches to treatment in Niemann-Pick type C disease

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.07.004

7 January 2021

Niemann-Pick C disease and mobilization of lysosomal cholesterol by cyclodextrin

1 reference

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7 January 2021

Identifiers

10.1016/J.YMGME.2014.07.004

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Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25095726%20AND%20SRC:MED&resulttype=core&format=json

12 March 2020

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25095726%20AND%20SRC:MED&resulttype=core&format=json

12 March 2020

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