Back to search

Article

Identification of Two Novel Mutations of ABCD1 Gene in Pedigrees With X‐linked Adrenoleukodystrophy and Review of the Literatures

2021-02-09

Abstract excerpt

<title>Abstract</title> <p>BackgroundX-linked adrenoleukodysrophy (ALD) is an inherited peroxisomal metabolism disorder, results from the loss-of-function mutation of ATP-binding cassette protein subfamily D1 ( ABCD1 ) gene. The dysfunction of ALD protein, a peroxisomal ATP-binding cassette transporter, results in the excessive saturated very long chain fatty acids (VLCFAs) accumulation in organs including brain,...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work
1f074fa8-9c78-5457-bf19-f6828e3e511c
DOI
10.21203/rs.3.rs-179763/v1
Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest
Interactive article relationship graphSelect a related publication card to move it into the centre and load its closest explainable connections. Solid lines are source-backed structured connections. Dashed lines are semantic discovery signals and are not scientific evidence.
Identification of Two Novel Mutations of ABCD1&nbsp;Gene in Pedigrees With X‐linked Adrenoleukodystrophy and Review of the LiteraturesDOI 10.21203/rs.3.rs-179763/v1
Identification of two novel mutations of&nbsp;ABCD1&nbsp;gene in pedigrees with X‐linked adrenoleukodystrophySemantic proximity
Identification of Two Novel Mutations of ABCD1 Gene in Pedigrees with X-Linked Adrenoleukodystrophy and Review of the LiteratureSemantic proximity
Novel ABCD1 Gene Mutation in a Korean Patient with X-Linked Adrenoleukodystrophy Presenting with Addison's Disease.Semantic proximity
X-linked adrenoleukodystrophy caused by a novel mutation presenting with various phenotypes in a Taiwanese family.Semantic proximity
X-linked adrenoleukodystrophy: clinical, metabolic, genetic and pathophysiological aspects.Semantic proximity
Management of adrenoleukodystrophy: From pre-clinical studies to the development of new therapiesSemantic proximity
ABCD1 mutations and the X-linked adrenoleukodystrophy mutation database: role in diagnosis and clinical correlations.Semantic proximity
X-linked adrenoleukodystrophy.Semantic proximity
A novel mutation in the ABCD1 gene of a Chinese patient with X-linked adrenoleukodystrophy: Case report.Semantic proximity
Management of adrenoleukodystrophy: From pre-clinical studies to the development of new therapies.Semantic proximity
Diverse clinical manifestations of X-linked adrenoleukodystrophy in a Chinese family with identical multisite variants of ABCD1 gene.Semantic proximity
ABCD1 mutations and phenotype distribution in Chinese patients with X-linked adrenoleukodystrophy.Semantic proximity
Select a neighboring publication to make it the new centre.