(Q24561552)

English

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

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scholarly article

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

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Zellweger syndrome

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based on heuristic

inferred from title

author name string

S Brul

1

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A Westerveld

2

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A Strijland

3

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R J Wanders

4

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A W Schram

5

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H S Heymans

6

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R B Schutgens

7

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H van den Bosch

8

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J M Tager

9

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language of work or name

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publication date

June 1988

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Journal of Clinical Investigation

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81

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1710-5

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6

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Protein measurement with the Folin phenol reagent

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=442615

24 March 2017

Peroxisomal alanine:glyoxylate aminotransferase deficiency in primary hyperoxaluria type I

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=442615

24 March 2017

Hyperpipecolic acidemia associated with hepatomegaly, mental retardation, optic nerve dysplasia and progressive neurological disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=442615

24 March 2017

Biogenesis of peroxisomes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=442615

7 April 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=442615

27 September 2017

Peroxisomes (microbodies) in cell pathology.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=442615

27 September 2017

The cerebrohepatorenal syndrome of Zellweger, morphologic and metabolic aspects

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=442615

27 September 2017

How proteins get into microbodies (peroxisomes, glyoxysomes, glycosomes).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=442615

27 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=442615

27 September 2017

Peroxisomal disorders: a newly recognised group of genetic diseases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=442615

27 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=442615

27 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=442615

30 May 2018

A milder variant of Zellweger syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=442615

30 May 2018

Rhizomelic chondrodysplasia punctata: another peroxisomal disorder.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=442615

30 May 2018

Synthesis of 3-ketoacyl-CoA thiolase of rat liver peroxisomes on free polyribosomes as a larger precursor. Induction of thiolase mRNA activity by clofibrate

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=442615

30 May 2018

More on Zellweger's syndrome, infantile Refsum's disease, and rhizomelic chondrodysplasia punctata.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=442615

30 May 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=442615

30 May 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=442615

30 May 2018

Glycerolipid biosynthesis in peroxisomes via the acyl dihydroxyacetone phosphate pathway

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=442615

28 November 2018

Deficiency of plasmalogens in the cerebro-hepato-renal (Zellweger) syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=442615

28 November 2018

Deficiency of acyl-CoA: dihydroxyacetone phosphate acyltransferase in patients with Zellweger (cerebro-hepato-renal) syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=442615

28 November 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=442615

28 November 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=442615

28 November 2018

Determining optimal therapy--randomized trials in individual patients

1 reference

https://pubmed.ncbi.nlm.nih.gov/2454948

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Peroxisomal localization of alanine: Glyoxylate aminotransferase in human liver

1 reference

https://pubmed.ncbi.nlm.nih.gov/2454948

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cell-free synthesis of the enzymes of peroxisomal beta-oxidation

1 reference

https://pubmed.ncbi.nlm.nih.gov/2454948

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Degradation of cholesterol to propionic acid by rat liver peroxisomes

1 reference

https://pubmed.ncbi.nlm.nih.gov/2454948

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/2454948

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Chain-shortening of prostaglandin F2 alpha by rat liver peroxisomes

1 reference

https://pubmed.ncbi.nlm.nih.gov/2454948

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Age-related accumulation of phytanic acid in plasma from patients with the cerebro-hepato-renal (Zellweger) syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/2454948

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Biosynthesis and intracellular transport of alpha-glucosidase and cathepsin D in normal and mutant human fibroblasts

1 reference

https://pubmed.ncbi.nlm.nih.gov/2454948

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1172/JCI113510

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release_bx7256klmrd6bpmj26vlx645yq

1 reference

https://api.fatcat.wiki/v0/release/bx7256klmrd6bpmj26vlx645yq

24 November 2022

based on heuristic

mapped directly with Wikidata item

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