(Q57971907)

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

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

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author name string

E Christensen

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1

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J Van Eldere

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2

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N J Brandt

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3

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R B Schutgens

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4

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R J Wanders

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5

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H J Eyssen

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6

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English

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publication date

1990

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published in

Journal of Inherited Metabolic Disease

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volume

13

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issue

3

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page(s)

363-6

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Bile acids in peroxisomal disorders

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PubMed

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https://pubmed.ncbi.nlm.nih.gov/2122101

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12 December 2020

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The inborn errors of peroxisomal beta-oxidation: a review

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PubMed

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https://pubmed.ncbi.nlm.nih.gov/2122101

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12 December 2020

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The cerebro-hepato-renal (Zellweger) syndrome. Impaired de novo biosynthesis of plasmalogens in cultured skin fibroblasts

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PubMed

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https://pubmed.ncbi.nlm.nih.gov/2122101

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12 December 2020

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[Refsum's disease. Hereditary atactic polyneuritis]

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PubMed

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https://pubmed.ncbi.nlm.nih.gov/2122101

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12 December 2020

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Peroxisomal disorders in neurology

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PubMed

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https://pubmed.ncbi.nlm.nih.gov/2122101

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12 December 2020

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Acyl-CoA:dihydroxyacetone phosphate acyltransferase in human skin fibroblasts: study of its properties using a new assay method.

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/2122101

retrieved

12 December 2020

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PubMed publication ID

2122101

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(Q57971907)

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

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