Contiguous deletion of the X-linked adrenoleukodystrophy gene (ABCD1) and DXS1357E: a novel neonatal phenotype similar to peroxisomal biogenesis disorders (Q24561872)

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English	Contiguous deletion of the X-linked adrenoleukodystrophy gene (ABCD1) and DXS1357E: a novel neonatal phenotype similar to peroxisomal biogenesis disorders	scientific article

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scholarly article

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Contiguous deletion of the X-linked adrenoleukodystrophy gene (ABCD1) and DXS1357E: a novel neonatal phenotype similar to peroxisomal biogenesis disorders (English)

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X-linked adrenoleukodystrophy

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based on heuristic

inferred from title

Zellweger spectrum disorder

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based on heuristic

inferred from title

11

object named as

Gerald V Raymond

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author name string

Deyanira Corzo

1

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William Gibson

2

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Kisha Johnson

3

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Grant Mitchell

4

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Guy LePage

5

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Gerald F Cox

6

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Robin Casey

7

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Carolyn Zeiss

8

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Heidi Tyson

9

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Garry R Cutting

10

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Kirby D Smith

12

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Paul A Watkins

13

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Ann B Moser

14

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Hugo W Moser

15

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Steven J Steinberg

16

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language of work or name

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publication date

June 2002

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American Journal of Human Genetics

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70

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6

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1520-31

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X-linked creatine-transporter gene (SLC6A8) defect: a new creatine-deficiency syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=419992

24 March 2017

Characterization and functional analysis of the nucleotide binding fold in human peroxisomal ATP binding cassette transporters

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=419992

24 March 2017

Homo- and heterodimerization of peroxisomal ATP-binding cassette half-transporters

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=419992

24 March 2017

Human very-long-chain acyl-CoA synthetase: cloning, topography, and relevance to branched-chain fatty acid metabolism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=419992

24 March 2017

Identification of a testis-expressed creatine transporter gene at 16p11.2 and confirmation of the X-linked locus to Xq28

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=419992

24 March 2017

The specificity of association of the IgD molecule with the accessory proteins BAP31/BAP29 lies in the IgD transmembrane sequence

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=419992

24 March 2017

Putative X-linked adrenoleukodystrophy gene shares unexpected homology with ABC transporters

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=419992

24 March 2017

Altered expression of ALDP in X-linked adrenoleukodystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=419992

24 March 2017

ABCD1 mutations and the X-linked adrenoleukodystrophy mutation database: role in diagnosis and clinical correlations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=419992

24 March 2017

Genomic organization of the adrenoleukodystrophy gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=419992

24 March 2017

A new human gene (DXS1357E) with ubiquitous expression, located in Xq28 adjacent to the adrenoleukodystrophy gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=419992

24 March 2017

Distinction between peroxisomal bifunctional enzyme and acyl-CoA oxidase deficiencies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=419992

24 March 2017

Genotype-phenotype correlations in disorders of peroxisome biogenesis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=419992

27 September 2017

Role of very-long-chain acyl-coenzyme A synthetase in X-linked adrenoleukodystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=419992

27 September 2017

X-linked adrenoleukodystrophy: genes, mutations, and phenotypes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=419992

27 September 2017

Accurate DNA-based diagnostic and carrier testing for X-linked adrenoleukodystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=419992

27 September 2017

Plasma very long chain fatty acids in 3,000 peroxisome disease patients and 29,000 controls

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=419992

27 September 2017

Mutational and protein analysis of patients and heterozygous women with X-linked adrenoleukodystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=419992

27 September 2017

Brain, liver, and adipose tissue erucic and very long chain fatty acid levels in adrenoleukodystrophy patients treated with glyceryl trierucate and trioleate oils (Lorenzo's oil).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=419992

27 September 2017

Peroxisomal lignoceroyl-CoA ligase deficiency in childhood adrenoleukodystrophy and adrenomyeloneuropathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=419992

27 September 2017

Genetic analysis of the human cell surface: antigenic marker for the human X chromosome in human-mouse hybrids

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=419992

27 September 2017

Interchromosomal duplications of the adrenoleukodystrophy locus: a phenomenon of pericentromeric plasticity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=419992

30 May 2018

Duplication of a gene-rich cluster between 16p11.1 and Xq28: a novel pericentromeric-directed mechanism for paralogous genome evolution

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=419992

30 May 2018

The prenatal diagnosis of adrenoleukodystrophy. Demonstration of increased hexacosanoic acid levels in cultured amniocytes and fetal adrenal gland

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=419992

30 May 2018

Disturbed adrenocortical function in cerebro-hepato-renal syndrome of Zellweger

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=419992

30 May 2018

The cerebrohepatorenal (Zellweger) syndrome: an improved method for the biochemical diagnosis and its potential value for prenatal detection

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=419992

30 May 2018

Diagnosis of inborn errors of phytanic acid oxidation using tritiated phytanic acid

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=419992

30 May 2018

Urinary organic acids in peroxisomal disorders: a simple screening method

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=419992

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=419992

28 November 2018

Phenotype of patients with peroxisomal disorders subdivided into sixteen complementation groups

1 reference

https://pubmed.ncbi.nlm.nih.gov/11992258

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Partial deletions of putative adrenoleukodystrophy (ALD) gene in Japanese ALD patients

1 reference

https://pubmed.ncbi.nlm.nih.gov/11992258

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Urinary bile acids and peroxisomal bifunctional enzyme deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/11992258

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genetic peroxisomal disorders: why, when, and how to test

1 reference

https://pubmed.ncbi.nlm.nih.gov/11992258

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The prenatal diagnosis of X-linked adrenoleukodystrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/11992258

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Adrenoleukodystrophy: incidence, new mutation rate, and results of extended family screening

1 reference

https://pubmed.ncbi.nlm.nih.gov/11992258

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

ABCD1 translation-initiator mutation demonstrates genotype-phenotype correlation for AMN

1 reference

https://pubmed.ncbi.nlm.nih.gov/11992258

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Gas-chromatographic method of analysis for urinary organic acids. II. Description of the procedure, and its application to diagnosis of patients with organic acidurias

1 reference

https://pubmed.ncbi.nlm.nih.gov/11992258

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/11992258

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/11992258

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Predictions of a 2-locus model for disease heterogeneity: application to adrenoleukodystrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/11992258

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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