Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

High incidence of null variants identified from newborn screening of X-linked adrenoleukodystrophy in Taiwan

28 Jul 2022

Abstract excerpt

Adrenoleukodystrophy (ALD) is an X-linked peroxisomal disorder caused by variants in the ABCD1 gene and can lead to Addison disease, childhood cerebral ALD, or adrenomyeloneuropathy. Presymptomatic hematopoietic stem cell transplantation is the only curative treatment for the disease and requires early detection through newborn screening (NBS) and close follow-up. An NBS program for ALD was performed by a...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Neurogenetic and Muscular Disorders Research
Share to Peroxisome Proliferator-Activated Receptors
Share to Zebrafish Biomedical Research Applications

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 36046390
DOI: 10.1016/j.ymgmr.2022.100902

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

High incidence of null variants identified from newborn screening of X-linked adrenoleukodystrophy in TaiwanPMID 36046390Read ↗

Identification of two novel mutations of ABCD1 gene in pedigrees with X‐linked adrenoleukodystrophySemantic proximity Read ↗

Identification of Two Novel Mutations of ABCD1 Gene in Pedigrees with X-Linked Adrenoleukodystrophy and Review of the LiteratureSemantic proximity Read ↗

Newborn Screening for X-Linked Adrenoleukodystrophy (X-ALD): Biochemical, Molecular, and Clinical Characteristics of Other Genetic ConditionsSemantic proximity Read ↗

Evaluation of X-Linked Adrenoleukodystrophy Newborn Screening in North CarolinaSemantic proximity Read ↗

Identification of Two Novel Mutations of ABCD1 Gene in Pedigrees With X‐linked Adrenoleukodystrophy and Review of the LiteraturesSemantic proximity Read ↗

ABCD1 mutations and the X-linked adrenoleukodystrophy mutation database: role in diagnosis and clinical correlations.Semantic proximity Read ↗

Novel ABCD1 Gene Mutation in a Korean Patient with X-Linked Adrenoleukodystrophy Presenting with Addison's Disease.Semantic proximity Read ↗

A novel mutation in the ABCD1 gene of a Chinese patient with X-linked adrenoleukodystrophy: Case report.Semantic proximity Read ↗

Newborn Screening for X-Linked Adrenoleukodystrophy in Nebraska: Initial Experiences and ChallengesSemantic proximity Read ↗

Mutational analyses of Taiwanese kindred with X-linked adrenoleukodystrophy.Semantic proximity Read ↗

X-linked adrenoleukodystrophy.Semantic proximity Read ↗

Structure and Function of the ABCD1 Variant Database: 20 Years, 940 Pathogenic Variants, and 3400 Cases of Adrenoleukodystrophy.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.