(Q44321290)

1 December 2017

Phytanic acid alpha-oxidation and complementation analysis of classical Refsum and peroxisomal disorders (English)

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1 December 2017

B T Poll-The

1

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1 December 2017

O H Skjeldal

2

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1 December 2017

O Stokke

3

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1 December 2017

A Poulos

4

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1 December 2017

F Demaugre

5

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1 December 2017

J M Saudubray

6

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1 December 2017

language of work or name

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1 January 1989

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1 December 2017

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1 December 2017

81

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1 December 2017

175-181

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1 December 2017

2

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https://scigraph.springernature.com/pub.10.1007/bf00293897

1 December 2017

0 references

cites work

The subcellular localization of phytanic acid oxidase in rat liver

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12 December 2020

Peroxisomal beta-oxidation enzyme proteins in adrenoleukodystrophy: distinction between X-linked adrenoleukodystrophy and neonatal adrenoleukodystrophy

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12 December 2020

Refsum's disease, adrenoleucodystrophy, and the Zellweger syndrome

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12 December 2020

Hepatic peroxisomes are deficient in infantile refsum disease: a cytochemical study of 4 cases

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12 December 2020

Infantile Refsum's disease: biochemical findings suggesting multiple peroxisomal dysfunction.

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12 December 2020

Peroxisomal defects in neonatal-onset and X-linked adrenoleukodystrophies

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12 December 2020

Refsum's disease: characterization of the enzyme defect in cell culture

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12 December 2020

A method for enrichment of hybrid somatic cells: complementation studies in certain lysosomal enzymopathies

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12 December 2020

Accumulation and defective beta-oxidation of very long chain fatty acids in Zellweger's syndrome, adrenoleukodystrophy and Refsum's disease variants

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12 December 2020

Biogenesis of peroxisomes

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12 December 2020

Cerebro-hepato-renal (Zellweger) syndrome, adrenoleukodystrophy, and Refsum's disease: plasma changes and skin fibroblast phytanic acid oxidase

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12 December 2020

Peroxisomal membrane ghosts in Zellweger syndrome--aberrant organelle assembly

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12 December 2020

Diagnosis of Refsum's disease using [1-14C]phytanic acid as substrate

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12 December 2020

A new peroxisomal disorder with enlarged peroxisomes and a specific deficiency of acyl-CoA oxidase (pseudo-neonatal adrenoleukodystrophy)

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12 December 2020

Genetic relation between the Zellweger syndrome, infantile Refsum's disease, and rhizomelic chondrodysplasia punctata.

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12 December 2020

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12 December 2020

Rhizomelic chondrodysplasia punctata: another peroxisomal disorder.

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12 December 2020

Infantile Refsum's disease (phytanic acid storage disease): a variant of Zellweger's syndrome?

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12 December 2020

Inborn errors of cellular organelles: an overview

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12 December 2020

Phytanic acid oxidase activity in cultured skin fibroblasts. Diagnostic usefulness and limitations

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12 December 2020

The effect of D-carnitine on palmitate oxidation in cultured fibroblasts

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12 December 2020

Peroxisomes in fibroblasts from skin of Refsum's disease patients

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12 December 2020

Refsum disease. Clinical and morphological report on a case

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12 December 2020

Peroxisomal oxidation of L-2-hydroxyphytanic acid in rat kidney cortex

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12 December 2020

Accumulation of pristanic acid (2, 6, 10, 14 tetramethylpentadecanoic acid) in the plasma of patients with generalised peroxisomal dysfunction

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12 December 2020

The cerebrohepatorenal (Zellweger) syndrome. Increased levels and impaired degradation of very-long-chain fatty acids and their use in prenatal diagnosis.

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12 December 2020

Peroxisomal and mitochondrial defects in the cerebro-hepato-renal syndrome.

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12 December 2020

Infantile Refsum disease: an inherited peroxisomal disorder. Comparison with Zellweger syndrome and neonatal adrenoleukodystrophy.

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12 December 2020

Neonatal adrenoleukodystrophy. Impaired plasmalogen biosynthesis and peroxisomal beta-oxidation due to a deficiency of catalase-containing particles (peroxisomes) in cultured skin fibroblasts

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12 December 2020

Atypical phenotype of Refsum's disease: clinical, biochemical, neurophysiological and pathological study

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12 December 2020

Biosynthesis and maturation of peroxisomal beta-oxidation enzymes in fibroblasts in relation to the Zellweger syndrome and infantile Refsum disease

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12 December 2020

Studies on the alpha oxidation of phytanic acid by rat liver mitochondria

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12 December 2020

Protein measurement with the Folin phenol reagent

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12 December 2020

Clinical and biochemical heterogeneity in conditions with phytanic acid accumulation

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12 December 2020

Peroxisomal disorders: a newly recognised group of genetic diseases

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12 December 2020

Neonatal adrenoleukodystrophy: new cases, biochemical studies, and differentiation from Zellweger and related peroxisomal polydystrophy syndromes

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12 December 2020

Infantile Refsum disease: deficiency of catalase-containing particles (peroxisomes), alkyldihydroxyacetone phosphate synthase and peroxisomal beta-oxidation enzyme proteins

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12 December 2020

Identifiers

DOI

10.1007/BF00293897

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1 December 2017

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