Niemann-Pick disease type C and defective peroxisomal beta-oxidation of branched-chain substrates (Q74536521)

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11 November 2019

title

Niemann-Pick disease type C and defective peroxisomal beta-oxidation of branched-chain substrates (English)

1 reference

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11 November 2019

1 reference

Niemann-Pick disease, type C1

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inferred from title

author

Peter Theodore Clayton

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ORCID Public Data File 2021

author name string

J S Sequeira

1

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11 November 2019

A Vellodi

2

1 reference

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11 November 2019

M T Vanier

3

1 reference

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11 November 2019

P T Clayton

4

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11 November 2019

publication date

1 April 1998

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Journal of Inherited Metabolic Disease

11 November 2019

published in

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11 November 2019

volume

21

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11 November 2019

issue

2

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11 November 2019

page(s)

149-154

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Type C Niemann-Pick disease: spectrum of phenotypic variation in disruption of intracellular LDL-derived cholesterol processing

11 November 2019

cites work

1 reference

12 December 2020

Niemann-Pick C1 disease gene: homology to mediators of cholesterol homeostasis

1 reference

12 December 2020

Ataxia associated with increased plasma concentrations of pristanic acid, phytanic acid and C27 bile acids but normal fibroblast branched-chain fatty acid oxidation

1 reference

12 December 2020

Sterol carrier protein X is peroxisomal 3-oxoacyl coenzyme A thiolase with intrinsic sterol carrier and lipid transfer activity

1 reference

12 December 2020

Inborn errors of bile acid metabolism

1 reference

12 December 2020

Genetic heterogeneity in Niemann-Pick C disease: a study using somatic cell hybridization and linkage analysis.

1 reference

12 December 2020

Complementation studies in Niemann-Pick disease type C indicate the existence of a second group

1 reference

12 December 2020

A new peroxisomal disorder: di- and trihydroxycholestanaemia due to a presumed trihydroxycholestanoyl-CoA oxidase deficiency

1 reference

12 December 2020