(Q33822503)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24954351%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

case report

0 references

title

Isolated cerebellar variant of adrenoleukodystrophy with a de novo adenosine triphosphate-binding cassette D1 (ABCD1) gene mutation (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24954351%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

main subject

adenosine triphosphate

0 references

author

Hyo Suk Nam

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24954351%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

7

Hoon-Chul Kang

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24954351%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

4

Young-Mock Lee

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24954351%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

author name string

Joon Won Kang

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24954351%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

Sang Mi Lee

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24954351%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

Kyo Yeon Koo

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24954351%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

Zhejiu Quan

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24954351%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

publication date

1 July 2014

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24954351%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

published in

Yonsei Medical Journal

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24954351%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

volume

55

1 reference

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21 March 2020

issue

4

1 reference

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21 March 2020

page(s)

1157-1160

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24954351%20AND%20SRC:MED&resulttype=core&format=json

Creative Commons Attribution-NonCommercial 3.0 Unported

21 March 2020

copyright license

start time

1 January 2014

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

X-linked adrenoleukodystrophy: clinical, metabolic, genetic and pathophysiological aspects.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4075381

Peroxisomal leukoencephalopathy

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4075381

Spinocerebellar variant of adrenoleukodystrophy with a novel ABCD1 gene mutation

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4075381

Adrenoleukodystrophy manifesting as spinocerebellar degeneration.

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4075381

MRI of adrenoleukodystrophy involving predominantly the cerebellum and brain stem

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4075381

Magnetic resonance imaging in adrenoleukodystrophy presenting as spinocerebellar degeneration

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4075381

Adrenoleukodystrophy: phenotypic variability and implications for therapy

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4075381

Ataxic variant of adrenoleukodystrophy: MRI and CT findings

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4075381

Teaching neuroimages: Cerebral adrenoleukodystrophy: a rare adult form.

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4075381

Natural history of X-linked adrenoleukodystrophy in Japan

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4075381

Analysis of MRI patterns aids prediction of progression in X-linked adrenoleukodystrophy

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4075381

X-linked adrenoleukodystrophy: spinocerebellar variant

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4075381

Adrenoleukodystrophy presenting as spinocerebellar degeneration

29 October 2018

1 reference

12 December 2020

[A case of adrenoleukodystrophy presenting large lesion of the cerebellar white matter and dentate nuclei on brain CT and MRI]

1 reference

12 December 2020

A novel point mutation in X-linked adrenoleukodystrophy presenting as a spinocerebellar degeneration

1 reference

12 December 2020

X-linked adrenoleukodystrophy with olivopontocerebellar atrophy

1 reference

12 December 2020

An adult case of adrenoleukodystrophy with features of olivo-ponto-cerebellar atrophy: I. Clinical and pathological studies

1 reference

12 December 2020

10.3349/YMJ.2014.55.4.1157

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24954351%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24954351%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

PubMed publication ID

24954351

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24954351%20AND%20SRC:MED&resulttype=core&format=json