A pilot study of newborn screening for X-linked adrenoleukodystrophy based on liquid chromatography-tandem mass spectrometry method for detection of C26:0-lysophosphatidylcholine in dried blood spots: Results from 43,653 newborns in a southern Chinese population

Author:

Tang Chengfang,Tang Fang,Cai Yanna,Tan Minyi,Liu Sichi,Xie Ting,Jiang Xiang,Huang YonglanORCID

Publisher

Elsevier BV

Subject

Biochemistry (medical),Clinical Biochemistry,Biochemistry,General Medicine

Reference30 articles.

1. Newborn screening for X-linked adrenoleukodystrophy: review of data and outcomes in Pennsylvania;Priestley;Int. J. Neonatal. Screen.,2022

2. Laboratory diagnosis of disorders of peroxisomal biogenesis and function: a technical standard of the American College of Medical Genetics and Genomics (ACMG);De Biase;GeneticsMed. :. Off. J. Am. College. Med. Genet.,2020

3. Structure and Function of the ABCD1 Variant Database: 20 Years, 940 Pathogenic Variants, and 3400 Cases of Adrenoleukodystrophy;Mallack;Cells.,2022

4. Patrick Aubourg and Bwee Tien Poll-The, X-linked adrenoleukodystrophy (X-ALD): clinical presentation and guidelines for diagnosis, follow-up and management;Marc Engelen;Orphanet. J. Rare. Dis.,2012

5. X-linked adrenoleukodystrophy: clinical, metabolic, genetic and pathophysiological aspects;Kemp;Biochim. Biophys. Acta.,1822

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