Clinical experience with miglustat therapy in pediatric patients with Niemann-Pick disease type C: a case series (Q33444791)

26 July 2017

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

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Niemann-Pick disease, type C1

26 July 2017

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J Macías-Vidal

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Ana Gaspar

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A Gaspar

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author name string

M Pineda

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M S Perez-Poyato

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M O'Callaghan

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M A Vilaseca

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M Pocovi

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R Domingo

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L Ruiz Portal

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A Verdú Pérez

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T Temudo

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J J Garcia Peñas

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S Roldán

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L Martín Fumero

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O Blanco de la Barca

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M T García Silva

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M J Coll

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language of work or name

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29 November 2009

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Molecular Genetics and Metabolism

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99

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358-366

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Niemann-Pick disease type C.

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.11.007

Niemann-Pick C2 (NPC2) and intracellular cholesterol trafficking

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.11.007

Genetic evidence for nonredundant functional cooperativity between NPC1 and NPC2 in lipid transport

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.11.007

Niemann-Pick disease type C: spectrum of HE1 mutations and genotype/phenotype correlations in the NPC2 group

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.11.007

Lipid changes in Niemann-Pick disease type C brain: personal experience and review of the literature

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.11.007

Biochemical studies in Niemann-Pick disease. I. Major sphingolipids of liver and spleen

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.11.007

Natural history of Niemann-Pick disease type C in a multicentre observational retrospective cohort study.

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.11.007

Niemann-Pick C disease in Spain: clinical spectrum and development of a disability scale

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.11.007

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

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.11.007

Marked elevation of the chemokine CCL18/PARC in Gaucher disease: a novel surrogate marker for assessing therapeutic intervention

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.11.007

Elevated plasma chitotriosidase activity in various lysosomal storage disorders.

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.11.007

Critical assessment of chitotriosidase analysis in the rational laboratory diagnosis of children with Gaucher disease and Niemann-Pick disease type A/B and C

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.11.007

Therapy of Niemann-Pick disease, type C.

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.11.007

Inhibition of Glycosphingolipid Biosynthesis: Application to Lysosomal Storage Disorders

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.11.007

Critical role for glycosphingolipids in Niemann-Pick disease type C.

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.11.007

Niemann-Pick disease type C1 is a sphingosine storage disease that causes deregulation of lysosomal calcium

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.11.007

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.11.007

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.11.007

Marked elevation of plasma chitotriosidase activity. A novel hallmark of Gaucher disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.11.007

Serum chitotriosidase activity is increased in subjects with atherosclerosis disease.

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.11.007

Identification of 25 new mutations in 40 unrelated Spanish Niemann-Pick type C patients: genotype-phenotype correlations.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.11.007

Nonsense-mediated mRNA decay process in nine alleles of Niemann-Pick type C patients from Spain

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.11.007

24 month-treatment with miglustat of three patients with Niemann-Pick disease type C: follow up using brain spectroscopy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.11.007

Treatment of Niemann-Pick disease type C in two children with miglustat: initial responses and maintenance of effects over 1 year.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.11.007

Rheological determinants in patients with Gaucher disease and internal inflammation.

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.11.007

Treatment of a child diagnosed with Niemann-Pick disease type C with miglustat: a case report in Brazil

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.11.007

Motion analysis of a child with Niemann-Pick disease type C treated with miglustat

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.11.007

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.11.007

10.1016/J.YMGME.2009.11.007

7 January 2021

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DOI

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26 July 2017

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