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Article

Insights From Minnesota on Newborn Screening for Adrenoleukodystrophy: A 5-Year Update.

American journal of medical genetics. Part A - 1 May 2025

Rayannavar Arpana, Billington Charles J, Tryon Rebecca, Kaye Tory, Gupta Ashish, Lund Troy C, Lteif Aida, Adriatico Katherine, Orchard Paul J, Miller Bradley S, Pillai Nishitha R

Abstract excerpt

Our objectives are to report on the outcomes of adrenal insufficiency (AI) and cerebral ALD (cALD) in children diagnosed with X-linked adrenoleukodystrophy (ALD) identified by newborn screening (NBS) in Minnesota in the first 5 years following initiation of NBS in 02/2017. A retrospective chart review was conducted for children diagnosed with ALD via Minnesota NBS from 02/06/2017 through 02/06/2022. Data reviewed...

Topics

Humans
Male
Female
Infant, Newborn
Child, Preschool
Child
Neonatal Screening
Minnesota
Peroxisomal Disorders
Follow-Up Studies
Adrenal Insufficiency

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Genetic Diseases, X-Linked

Brain Diseases

Infant

ATP Binding Cassette Transporter, Subfamily D, Member 1

Genotype

Source

Identifiers

PMID: 39803877
DOI: 10.1002/ajmg.a.63995

Genes

ABCD1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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