Refsum's disease: characterization of the enzyme defect in cell culture
about
Neuroectodermal (CHIME) syndrome: an additional case with long term follow up of all reported cases.Phytol metabolites are circulating dietary factors that activate the nuclear receptor RXRLocalization of the oxidative defect in phytanic acid degradation in patients with Refsum's disease.A defect in pyruvate decarboxylase in a child with an intermittent movement disorder.Refsum's syndrome: report of three cases.The biological significance of ω-oxidation of fatty acids.Detection of inborn errors of metabolism.Formic acid is a product of the alpha-oxidation of fatty acids by human skin fibroblasts: deficiency of formic acid production in peroxisome-deficient fibroblasts.Incorporation of radioactivity into amino acids and fatty acids after administration of 14C-geranylgeranylacetone to rats.Phytanic acid oxidase activity in cultured skin fibroblasts. Diagnostic usefulness and limitations.
P2860
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P2860
Refsum's disease: characterization of the enzyme defect in cell culture
description
1969 nî lūn-bûn
@nan
1969年の論文
@ja
1969年論文
@yue
1969年論文
@zh-hant
1969年論文
@zh-hk
1969年論文
@zh-mo
1969年論文
@zh-tw
1969年论文
@wuu
1969年论文
@zh
1969年论文
@zh-cn
name
Refsum's disease: characterization of the enzyme defect in cell culture
@ast
Refsum's disease: characterization of the enzyme defect in cell culture
@en
type
label
Refsum's disease: characterization of the enzyme defect in cell culture
@ast
Refsum's disease: characterization of the enzyme defect in cell culture
@en
prefLabel
Refsum's disease: characterization of the enzyme defect in cell culture
@ast
Refsum's disease: characterization of the enzyme defect in cell culture
@en
P2093
P2860
P356
P1476
Refsum's disease: characterization of the enzyme defect in cell culture
@en
P2093
Herndon JH Jr
Steinberg D
Uhlendorf BW
P2860
P304
P356
10.1172/JCI106058
P407
P577
1969-06-01T00:00:00Z