(Q47871318)

6 February 2018

title

Restoration of phytanic acid oxidation in Refsum disease fibroblasts from patients with mutations in the phytanoyl-CoA hydroxylase gene (English)

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6 February 2018

author name string

Chahal A

1

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6 February 2018

Khan M

2

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6 February 2018

Pai SG

3

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6 February 2018

Barbosa E

4

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6 February 2018

Singh I

5

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6 February 2018

language of work or name

English

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publication date

1 June 1998

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6 February 2018

published in

FEBS Letters

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6 February 2018

volume

429

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6 February 2018

issue

1

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6 February 2018

page(s)

119-122

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6 February 2018

Refsum disease is caused by mutations in the phytanoyl-CoA hydroxylase gene

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2898%2900575-4

Identification of PAHX, a Refsum disease gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2898%2900575-4

Peroxisomal disorders. Neurodevelopmental and biochemical aspects

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2898%2900575-4

Biochemistry of peroxisomes in health and disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2898%2900575-4

Phytanoyl-CoA hydroxylase is present in human liver, located in peroxisomes, and deficient in Zellweger syndrome: direct, unequivocal evidence for the new, revised pathway of phytanic acid alpha-oxidation in humans

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2898%2900575-4

Production of formyl-CoA during peroxisomal alpha-oxidation of 3-methyl-branched fatty acids

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2898%2900575-4

Formation of a 2-methyl-branched fatty aldehyde during peroxisomal α-oxidation

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2898%2900575-4

Localization of Refsum disease with increased pipecolic acidaemia to chromosome 10p by homozygosity mapping and carrier testing in a single nuclear family

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2898%2900575-4

Phytanoyl-CoA hydroxylase is not only deficient in classical Refsum disease but also in rhizomelic chondrodysplasia punctata

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2898%2900575-4

Phytanoyl-coenzyme A hydroxylase deficiency -- the enzyme defect in Refsum's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2898%2900575-4

Resolution of the phytanic acid alpha-oxidation pathway: identification of pristanal as product of the decarboxylation of 2-hydroxyphytanoyl-CoA

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2898%2900575-4

Ketoconazole and other imidazole derivatives are potent inhibitors of peroxisomal phytanic acid alpha-oxidation

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2898%2900575-4

10.1016/S0014-5793(98)00575-4

21 January 2018

Identifiers

DOI

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6 February 2018

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6 February 2018