(Q38237404)

31 August 2017

1 reference

title

Prenatal and perinatal diagnosis of peroxisomal disorders (English)

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31 August 2017

Schutgens RB

1

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31 August 2017

Schrakamp G

2

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31 August 2017

Wanders RJ

3

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31 August 2017

Heymans HS

4

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31 August 2017

Tager JM

5

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31 August 2017

van den Bosch H

6

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31 August 2017

1 January 1989

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Journal of Inherited Metabolic Disease

31 August 2017

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31 August 2017

12 Suppl 1

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31 August 2017

118-134

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https://scigraph.springernature.com/pub.10.1007/bf01799291

31 August 2017

0 references

cites work

Unsuccessful attempts to induce peroxisomes in two cases of Zellweger disease by treatment with clofibrate

1 reference

https://api.crossref.org/works/10.1007%2FBF01799291

Peroxisomal beta-oxidation of long-chain fatty acids possessing different extents of unsaturation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FBF01799291

Adrenoleukodystrophy: increased plasma content of saturated very long chain fatty acids

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FBF01799291

Studies on microperoxisomes. V. Are microperoxisomes ubiquitous in mammalian cells?

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FBF01799291

Adrenoleukodystrophy: oleic acid lowers fibroblast saturated C22-26 fatty acids

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FBF01799291

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FBF01799291

Direct demonstration that the deficient oxidation of very long chain fatty acids in X-linked adrenoleukodystrophy is due to an impaired ability of peroxisomes to activate very long chain fatty acids

21 January 2018

1 reference

12 December 2020

Oxidation of spermidine and spermine in rat liver: purification and properties of polyamine oxidase

1 reference

12 December 2020

Peroxisomal defects in neonatal-onset and X-linked adrenoleukodystrophies

1 reference

12 December 2020

A prenatal test for the cerebro-hepato-renal (Zellweger) syndrome by demonstration of the absence of catalase-containing particles (peroxisomes) in cultured amniotic fluid cells

1 reference

12 December 2020

Heterogeneity of Chondrodysplasia punctata

1 reference

12 December 2020

Lignoceric acid is oxidized in the peroxisome: implications for the Zellweger cerebro-hepato-renal syndrome and adrenoleukodystrophy

1 reference

12 December 2020

Linkage of adrenoleukodystrophy to a polymorphic DNA probe

1 reference

12 December 2020

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

1 reference

12 December 2020

The prenatal diagnosis of the cerebro-hepato-renal syndrome of Zellweger

1 reference

12 December 2020

Peroxisomal bifunctional enzyme deficiency

1 reference

12 December 2020

Beta-oxidation of the carboxyl side chain of prostaglandin E2 in rat liver peroxisomes and mitochondria

1 reference

12 December 2020

Peroxisomal very long-chain fatty acid beta-oxidation in human skin fibroblasts: activity in Zellweger syndrome and other peroxisomal disorders

1 reference

12 December 2020

Prenatal diagnosis of Zellweger syndrome and related disorders: impaired degradation of phytanic acid

1 reference

12 December 2020

Zellweger syndrome: biochemical and morphological studies on two patients treated with clofibrate

1 reference

12 December 2020

Immediate prenatal diagnosis of Zellweger syndrome by direct measurement of very long chain fatty acids in chorionic villus cells

1 reference

12 December 2020

Alanine glyoxylate aminotransferase and the urinary excretion of oxalate and glycollate in hyperoxaluria type I and the Zellweger syndrome

1 reference

12 December 2020

Very long chain fatty acid beta-oxidation by rat liver mitochondria and peroxisomes

1 reference

12 December 2020

Zellweger syndrome: diagnostic assays, syndrome delineation, and potential therapy.

1 reference

12 December 2020

Plasmalogen biosynthesis in peroxisomal disorders: fatty alcohol versus alkylglycerol precursors

1 reference

12 December 2020

Prenatal diagnosis of Zellweger cerebrohepatorenal syndrome.

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

Long term survival of a patient with the cerebro-hepato-renal (Zellweger) syndrome.

1 reference

12 December 2020

The cerebro-hepato-renal (Zellweger) syndrome: prenatal detection based on impaired biosynthesis of plasmalogens.

1 reference

12 December 2020

Adrenoleukodystrophy: diagnosis and carrier detection by determination of long-chain fatty acids in cultured fibroblasts

1 reference

12 December 2020

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

1 reference

12 December 2020

Peroxisomes (microbodies and related particles)

1 reference

12 December 2020

A milder variant of Zellweger syndrome.

1 reference

12 December 2020

Peroxisomes (microbodies) in cell pathology.

1 reference

12 December 2020

In vitro studies on the oxidation of medium-chain dicarboxylic acids in rat liver

1 reference

12 December 2020

Chain-shortening of a xenobiotic acyl compound by the peroxisomal beta-oxidation system in rat liver

1 reference

12 December 2020

Peroxisomal alanine:glyoxylate aminotransferase deficiency in primary hyperoxaluria type I

1 reference

12 December 2020

Biochemical abnormalities in rhizomelic chondrodysplasia punctata

1 reference

12 December 2020

Activity of peroxisomal enzymes and intracellular distribution of catalase in Zellweger syndrome.

1 reference

12 December 2020

Biosynthesis of membrane polypeptides of rat liver peroxisomes

1 reference

12 December 2020

Prenatal diagnosis of Zellweger's syndrome by chorionic villus sampling--and a caveat.

1 reference

12 December 2020

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

1 reference

12 December 2020

The adrenoleukodystrophies.

1 reference

12 December 2020

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

1 reference

12 December 2020

Genetic heterogeneity in the cerebrohepatorenal (Zellweger) syndrome and other inherited disorders with a generalized impairment of peroxisomal functions. A study using complementation analysis

1 reference

12 December 2020

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

1 reference

12 December 2020

Prenatal diagnosis of Zellweger syndrome by measurement of very long chain fatty acid (C26:0) beta-oxidation in cultured chorionic villous fibroblasts: implications for early diagnosis of other peroxisomal disorders

1 reference

12 December 2020

Antenatal diagnosis of infantile Refsum's disease

1 reference

12 December 2020

Peroxisomal disorders in neurology

1 reference

12 December 2020

Pseudo-Zellweger syndrome: deficiencies in several peroxisomal oxidative activities.

1 reference

12 December 2020

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

1 reference

12 December 2020

A new dietary therapy for adrenoleukodystrophy: biochemical and preliminary clinical results in 36 patients.

1 reference

12 December 2020

Cholesterol synthesis in rat liver peroxisomes. Conversion of mevalonic acid to cholesterol

1 reference

12 December 2020

First trimester prenatal diagnosis of adrenoleukodystrophy by determination of very long chain fatty acid levels and by linkage analysis to a DNA probe

1 reference

12 December 2020

beta-Oxidation of polyunsaturated fatty acids by rat liver peroxisomes. A role for 2,4-dienoyl-coenzyme A reductase in peroxisomal beta-oxidation

1 reference

12 December 2020

Clinical and biochemical heterogeneity in conditions with phytanic acid accumulation

1 reference

12 December 2020

Chain-shortening of prostaglandin F2 alpha by rat liver peroxisomes

1 reference

12 December 2020

Peroxisomal disorders: a newly recognised group of genetic diseases

1 reference

12 December 2020

A fatty acyl-CoA oxidizing system in rat liver peroxisomes; enhancement by clofibrate, a hypolipidemic drug

1 reference

12 December 2020

Human peroxisomal 3-oxoacyl-coenzyme A thiolase deficiency

1 reference

12 December 2020

Identification of L-pipecolate oxidase in human liver and its deficiency in the Zellweger syndrome

1 reference

12 December 2020

Diversity in residual alanine glyoxylate aminotransferase activity in hyperoxaluria type I: correlation with pyridoxine responsiveness

1 reference

12 December 2020

Oxidation of oxalate and polyamines by rat peroxisomes

1 reference

12 December 2020

Zellweger syndrome: biochemical procedures in diagnosis, prevention and treatment

1 reference

12 December 2020

https://api.fatcat.wiki/v0/release/cywagpdrzbb2dbx57nlvqlskfy

Identifiers

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30 July 2022

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Dimensions Publication ID

1039136198

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Fatcat ID

release_cywagpdrzbb2dbx57nlvqlskfy

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Fatcat

https://api.fatcat.wiki/v0/release/cywagpdrzbb2dbx57nlvqlskfy

30 July 2022

mapped directly with Wikidata item

1 reference

https://api.fatcat.wiki/v0/release/cywagpdrzbb2dbx57nlvqlskfy

30 July 2022