(Q44516117)

3 December 2017

title

X-linked adrenoleukodystrophy: phenotype distribution and expression of ALDP in Spanish kindreds (English)

1 reference

3 December 2017

X-linked adrenoleukodystrophy: Phenotype distribution and expression of ALDP in Spanish kindreds (English)

1 reference

10.1002/(SICI)1096-8628(19980413)76:5<424::AID-AJMG11>3.0.CO;2-O

https://api.crossref.org/works/10.1002/(SICI)1096-8628(19980413)76:5<424::AID-AJMG11>3.0.CO;2-O

X-linked adrenoleukodystrophy

18 December 2024

main subject

1 reference

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC:MED AND EXT_ID:9556303

18 December 2024

4

M. Girós

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC:MED AND EXT_ID:9556303

18 December 2024

author name string

M. Ruiz

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC:MED AND EXT_ID:9556303

18 December 2024

M. J. Coll

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC:MED AND EXT_ID:9556303

18 December 2024

T. Pàmpols

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC:MED AND EXT_ID:9556303

18 December 2024

language of work or name

1 reference

1 April 1998

1 reference

3 December 2017

13 April 1998

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=9556303

full work available at URL

18 December 2024

https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002/(SICI)1096-8628(19980413)76:5<424::AID-AJMG11>3.0.CO;2-O

1 reference

10.1002/(SICI)1096-8628(19980413)76:5<424::AID-AJMG11>3.0.CO;2-O

https://api.crossref.org/works/10.1002/(SICI)1096-8628(19980413)76:5<424::AID-AJMG11>3.0.CO;2-O

https://onlinelibrary.wiley.com/doi/full/10.1002/(SICI)1096-8628(19980413)76:5<424::AID-AJMG11>3.0.CO;2-O

18 December 2024

1 reference

10.1002/(SICI)1096-8628(19980413)76:5<424::AID-AJMG11>3.0.CO;2-O

https://api.crossref.org/works/10.1002/(SICI)1096-8628(19980413)76:5<424::AID-AJMG11>3.0.CO;2-O

American Journal of Medical Genetics Part A

18 December 2024

published in

1 reference

3 December 2017

volume

76

1 reference

3 December 2017

issue

5

1 reference

3 December 2017

page(s)

424-427

1 reference

ALDP expression in fibroblasts of patients with X-linked adrenoleukodystrophy

3 December 2017

cites work

1 reference

https://api.crossref.org/works/10.1002/(SICI)1096-8628(19980413)76:5<424::AID-AJMG11>3.0.CO;2-O

Komrower Lecture. Adrenoleukodystrophy: natural history, treatment and outcome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/(SICI)1096-8628(19980413)76:5<424::AID-AJMG11>3.0.CO;2-O

Adrenoleukodystrophy: phenotypic variability and implications for therapy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/(SICI)1096-8628(19980413)76:5<424::AID-AJMG11>3.0.CO;2-O

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/(SICI)1096-8628(19980413)76:5<424::AID-AJMG11>3.0.CO;2-O

The gene responsible for adrenoleukodystrophy encodes a peroxisomal membrane protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/(SICI)1096-8628(19980413)76:5<424::AID-AJMG11>3.0.CO;2-O

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/(SICI)1096-8628(19980413)76:5<424::AID-AJMG11>3.0.CO;2-O

Adrenoleukodystrophy presenting as addison's disease in children and adults

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/(SICI)1096-8628(19980413)76:5<424::AID-AJMG11>3.0.CO;2-O

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/(SICI)1096-8628(19980413)76:5<424::AID-AJMG11>3.0.CO;2-O

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/(SICI)1096-8628(19980413)76:5<424::AID-AJMG11>3.0.CO;2-O

Phenotypic heterogeneity of an adult form of adrenoleukodystrophy in monozygotic twins

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/(SICI)1096-8628(19980413)76:5<424::AID-AJMG11>3.0.CO;2-O

21 January 2018

Identifiers

10.1002/(SICI)1096-8628(19980413)76:5<424::AID-AJMG11>3.0.CO;2-O

1 reference

3 December 2017

1 reference