ABCD1 mutations and the X-linked adrenoleukodystrophy mutation database: role in diagnosis and clinical correlations (Q28211918)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11748843%20AND%20SRC:MED&resulttype=core&format=json

5 December 2019

review article

1 reference

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11748843%20AND%20SRC:MED&resulttype=core&format=json

5 December 2019

0 references

0 references

X-linked adrenoleukodystrophy

1 reference

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11748843%20AND%20SRC:MED&resulttype=core&format=json

5 December 2019

Aurora Pujol

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11748843%20AND%20SRC:MED&resulttype=core&format=json

5 December 2019

author name string

H R Waterham

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11748843%20AND%20SRC:MED&resulttype=core&format=json

5 December 2019

B M van Geel

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11748843%20AND%20SRC:MED&resulttype=core&format=json

5 December 2019

C D Boehm

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11748843%20AND%20SRC:MED&resulttype=core&format=json

5 December 2019

G V Raymond

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11748843%20AND%20SRC:MED&resulttype=core&format=json

5 December 2019

G R Cutting

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11748843%20AND%20SRC:MED&resulttype=core&format=json

5 December 2019

R J Wanders

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11748843%20AND%20SRC:MED&resulttype=core&format=json

5 December 2019

H W Moser

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11748843%20AND%20SRC:MED&resulttype=core&format=json

5 December 2019

language of work or name

English

0 references

publication date

1 December 2001

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11748843%20AND%20SRC:MED&resulttype=core&format=json

5 December 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11748843%20AND%20SRC:MED&resulttype=core&format=json

5 December 2019

volume

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11748843%20AND%20SRC:MED&resulttype=core&format=json

5 December 2019

issue

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11748843%20AND%20SRC:MED&resulttype=core&format=json

5 December 2019

page(s)

499-515

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11748843%20AND%20SRC:MED&resulttype=core&format=json

Rat adrenoleukodystrophy-related (ALDR) gene: full-length cDNA sequence and new insight in expression.

5 December 2019

cites work

1 reference

X-linked adrenoleukodystrophy (ALD): a novel mutation of the ALD gene in 6 members of a family presenting with 5 different phenotypes

21 January 2018

1 reference

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

21 January 2018

1 reference

High dose immunoglobulin IV treatment in adrenoleukodystrophy.

21 January 2018

1 reference

Retroviral-mediated gene transfer corrects very-long-chain fatty acid metabolism in adrenoleukodystrophy fibroblasts

21 January 2018

1 reference

The neurobiology of X-linked adrenoleukodystrophy, a demyelinating peroxisomal disorder

21 January 2018

1 reference

Eight novel ABCD1 gene mutations and three polymorphisms in patients with X-linked adrenoleukodystrophy: The first polymorphism causing an amino acid exchange.

21 January 2018

1 reference

Missense mutations are frequent in the gene for X-chromosomal adrenoleukodystrophy (ALD)

21 January 2018

1 reference

Mutations in the 70K peroxisomal membrane protein gene in Zellweger syndrome

21 January 2018

1 reference

Transport of fatty acids and metabolites across the peroxisomal membrane

21 January 2018

1 reference

ABC Transporters: From Microorganisms to Man

21 January 2018

1 reference

Assembly and function of the two ABC transporter proteins encoded in the human major histocompatibility complex

21 January 2018

1 reference

Identification of a two base pair deletion in five unrelated families with adrenoleukodystrophy: a possible hot spot for mutations.

21 January 2018

1 reference

Gene redundancy and pharmacological gene therapy: implications for X-linked adrenoleukodystrophy.

21 January 2018

1 reference

Mutational analysis of patients with X-linked adrenoleukodystrophy

21 January 2018

1 reference

Cerebral adrenoleukodystrophy (ALD) in only one of monozygotic twins with an identical ALD genotype.

21 January 2018

1 reference

Identification of mutations in the ALD-gene of 20 families with adrenoleukodystrophy/adrenomyeloneuropathy.

21 January 2018

1 reference

Adrenoleukodystrophy: correlating MR imaging with CT.

21 January 2018

1 reference

Peroxisomal lignoceroyl-CoA ligase deficiency in childhood adrenoleukodystrophy and adrenomyeloneuropathy

21 January 2018

1 reference

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

21 January 2018

1 reference

A close relative of the adrenoleukodystrophy (ALD) gene codes for a peroxisomal protein with a specific expression pattern

21 January 2018

1 reference

Human leukocyte antigens and cytokine expression in cerebral inflammatory demyelinative lesions of X-linked adrenoleukodystrophy and multiple sclerosis.

21 January 2018

1 reference

Adrenoleukodystrophy: phenotype, genetics, pathogenesis and therapy

21 January 2018

1 reference

X-Linked adrenoleukodystrophy: overview and prognosis as a function of age and brain magnetic resonance imaging abnormality. A study involving 372 patients

21 January 2018

1 reference

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

21 January 2018

1 reference

The gene responsible for adrenoleukodystrophy encodes a peroxisomal membrane protein

21 January 2018

1 reference

Childhood adrenoleukodystrophy. Failure of intensive immunosuppression to arrest neurologic progression

21 January 2018

1 reference

Adrenoleukodystrophy-related protein can compensate functionally for adrenoleukodystrophy protein deficiency (X-ALD): implications for therapy

21 January 2018

1 reference

Very long chain fatty acids in X-linked adrenoleukodystrophy brain after treatment with Lorenzo's oil.

21 January 2018

1 reference

Quantitative proton magnetic resonance spectroscopy of childhood adrenoleukodystrophy.

21 January 2018

1 reference

Adrenomyeloneuropathy: a neuropathologic review featuring its noninflammatory myelopathy

21 January 2018

1 reference

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).

21 January 2018

1 reference

Neurophysiological abnormalities in adrenoleukodystrophy carriers. Evidence of different degrees of central nervous system involvement.

21 January 2018

1 reference

Dietary erucic acid therapy for X-linked adrenoleukodystrophy

21 January 2018

1 reference

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

21 January 2018

1 reference

Adrenoleukodystrophy. A clinical and pathological study of 17 cases

21 January 2018

1 reference

PXA1, a possible Saccharomyces cerevisiae ortholog of the human adrenoleukodystrophy gene

21 January 2018

1 reference

A Saccharomyces cerevisiae homolog of the human adrenoleukodystrophy transporter is a heterodimer of two half ATP-binding cassette transporters

21 January 2018

1 reference

X-linked adrenoleukodystrophy: genes, mutations, and phenotypes

21 January 2018

1 reference

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

21 January 2018

1 reference

Mutational analysis and genotype-phenotype correlation of 29 unrelated Japanese patients with X-linked adrenoleukodystrophy.

21 January 2018

1 reference

Mirror expression of adrenoleukodystrophy and adrenoleukodystrophy related genes in mouse tissues and human cell lines

21 January 2018

1 reference

Predominance of the adrenomyeloneuropathy phenotype of X-linked adrenoleukodystrophy in The Netherlands: a survey of 30 kindreds

21 January 2018

1 reference

X linked adrenoleukodystrophy: clinical presentation, diagnosis, and therapy

21 January 2018

1 reference

Progression of abnormalities in adrenomyeloneuropathy and neurologically asymptomatic X-linked adrenoleukodystrophy despite treatment with "Lorenzo's oil"

21 January 2018

1 reference

Evolution of phenotypes in adult male patients with X-linked adrenoleukodystrophy

21 January 2018

1 reference

Transport of activated fatty acids by the peroxisomal ATP-binding-cassette transporter Pxa2 in a semi-intact yeast cell system

21 January 2018

1 reference

X-linked adrenoleukodystrophy: improved prenatal diagnosis using both biochemical and immunological methods.

21 January 2018

1 reference

Signs of testicular insufficiency in adrenomyeloneuropathy and neurologically asymptomatic X-linked adrenoleukodystrophy: a retrospective study

21 January 2018

1 reference

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

21 January 2018

1 reference

Maternal gonadal mosaicism causing ornithine transcarbamylase deficiency

21 January 2018

1 reference

Pitfalls in the prenatal diagnosis of peroxisomal beta-oxidation defects by chorionic villus sampling

21 January 2018

1 reference

Retroviral-mediated adrenoleukodystrophy-related gene transfer corrects very long chain fatty acid metabolism in adrenoleukodystrophy fibroblasts: implications for therapy

21 January 2018

1 reference

A misdiagnosis of X-linked adrenoleukodystrophy in cultured chorionic villus cells by the measurement of very long chain fatty acids

21 January 2018

1 reference

Progression of X-linked adrenoleukodystrophy under interferon-beta therapy

21 January 2018

1 reference

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

21 January 2018

1 reference

Prenatal diagnosis of X-linked adrenoleukodystrophy combining biochemical, immunocytochemical and DNA analyses

21 January 2018

1 reference

The inflammatory myelinopathy of adreno-leukodystrophy: cells, effector molecules, and pathogenetic implications

21 January 2018

1 reference

ALDP expression in fetal cells and its application in prenatal diagnosis of X-linked adrenoleukodystrophy

21 January 2018

1 reference

Long-term effect of bone-marrow transplantation for childhood-onset cerebral X-linked adrenoleukodystrophy

21 January 2018

1 reference

Adrenoleukodystrophy: impaired oxidation of very long chain fatty acids in white blood cells, cultured skin fibroblasts, and amniocytes

21 January 2018

1 reference

Phenotypic heterogeneity of an adult form of adrenoleukodystrophy in monozygotic twins

21 January 2018

1 reference

Adrenoleukodystrophy. Failure of immunosuppression to prevent neurological progression

21 January 2018

1 reference

Delay in diagnosis of X-linked adrenoleukodystrophy

21 January 2018

1 reference

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

21 January 2018

Identifiers

DOI

10.1002/HUMU.1227

2 references

Consolidated OpenCitations Corpus – April 2017

1315654

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11748843%20AND%20SRC:MED&resulttype=core&format=json

5 December 2019

1315654

1 reference

Consolidated OpenCitations Corpus – April 2017

Consolidated OpenCitations Corpus – April 2017

2 references

1315654

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11748843%20AND%20SRC:MED&resulttype=core&format=json