(Q50530598)

14 March 2018

title

Isolated defect of peroxisomal beta-oxidation in a 16-year-old patient. (English)

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14 March 2018

author

Alexander Claviez

2

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14 March 2018

author name string

R Santer

1

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14 March 2018

H D Oldigs

3

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14 March 2018

J Schaub

4

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R B Schutgens

5

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R J Wanders

6

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14 March 2018

publication date

1 April 1993

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14 March 2018

European Journal of Pediatrics

published in

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14 March 2018

volume

152

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14 March 2018

issue

4

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14 March 2018

page(s)

339-342

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14 March 2018

https://scigraph.springernature.com/pub.10.1007/bf01956749

exact match

0 references

cites work

A bifunctional protein with deficient enzymic activity: identification of a new peroxisomal disorder using novel methods to measure the peroxisomal beta-oxidation enzyme activities

1 reference

12 December 2020

Zellweger-like syndrome with detectable hepatic peroxisomes: a variant form of peroxisomal disorder

1 reference

12 December 2020

Dietary effects on serum-phytanic-acid levels and on clinical manifestations in heredopathia atactica polyneuritiformis

1 reference

12 December 2020

Peroxisomal bifunctional enzyme deficiency

1 reference

12 December 2020

Plasmalogen biosynthesis in peroxisomal disorders: fatty alcohol versus alkylglycerol precursors

1 reference

12 December 2020

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

1 reference

12 December 2020

Mitochondrial oxidation of phytanic acid in human and monkey liver: Implication that Refsum's disease is not a peroxisomal disorder

1 reference

12 December 2020

A milder variant of Zellweger syndrome.

1 reference

12 December 2020

Adrenoleukodystrophy: Elevated C26 fatty acid in cultured skin fibroblasts

1 reference

12 December 2020

Peroxisomal disorders: clinical characterization

1 reference

12 December 2020

C27 Bile Acids in Infants with Coprostanic Acidemia and Occurrence of a 3alpha,7alpha,12alpha-Trihydroxy-5beta-C29 Dicarboxylic Bile Acid as a Major Component in Their Serum

1 reference

12 December 2020

The inborn errors of peroxisomal beta-oxidation: a review

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12 December 2020

The adrenoleukodystrophies.

1 reference

12 December 2020

Bile acid analyses in "pseudo-Zellweger" syndrome; clues to the defect in peroxisomal beta-oxidation

1 reference

12 December 2020

Peroxisomal disorders in neurology

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12 December 2020

1 reference

12 December 2020

Pseudo-Zellweger syndrome: deficiencies in several peroxisomal oxidative activities

1 reference

12 December 2020

Simple diagnosis of the Zellweger syndrome by gas-liquid chromatography of dimethylacetals

1 reference

12 December 2020

Identification of pristanoyl-CoA oxidase activity in human liver and its deficiency in the Zellweger syndrome

1 reference

12 December 2020

Peroxisomal bifunctional protein from rat liver is a trifunctional enzyme possessing 2-enoyl-CoA hydratase, 3-hydroxyacyl-CoA dehydrogenase, and delta 3, delta 2-enoyl-CoA isomerase activities

1 reference

12 December 2020

Human peroxisomal 3-oxoacyl-coenzyme A thiolase deficiency

1 reference

12 December 2020

Peroxisomal beta-oxidation defect with detectable peroxisomes: a case with neonatal onset and progressive course

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF01956749

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14 March 2018

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14 March 2018