High incidence of null variants identified from newborn screening of X-linked adrenoleukodystrophy in Taiwan-Reference-Cited by-同舟云学术

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

Published:2022-09 Issue: Volume:32 Page:100902
ISSN:2214-4269
Container-title:Molecular Genetics and Metabolism Reports
language:en
Short-container-title:Molecular Genetics and Metabolism Reports

Author:

Chen Hui-An,Hsu Rai-Hseng,Chen Pin-Wen,Lee Ni-Chung,Chiu Pao-Chin,Hwu Wuh-Liang,Chien Yin-Hsiu

Funder

Health Promotion Administration, Ministry of Health and Welfare

Kaohsiung Veterans General Hospital

Ministry of Health and Welfare

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology

Reference38 articles.

1. ABCD1 mutations and the X-linked adrenoleukodystrophy mutation database: role in diagnosis and clinical correlations;Kemp;Hum. Mutat.,2001

2. X-linked adrenoleukodystrophy;Moser;Nat. Clin. Pract. Neurol.,2007

3. X-linked adrenoleukodystrophy (X-ALD): clinical presentation and guidelines for diagnosis, follow-up and management;Engelen;Orphanet J. Rare Dis.,2012

4. Evolution of phenotypes in adult male patients with X-linked adrenoleukodystrophy;van Geel;Ann. Neurol.,2001

5. The natural history of adrenal insufficiency in x-linked adrenoleukodystrophy: an international collaboration;Huffnagel;J. Clin. Endocrinol. Metab.,2019

Cited by 12 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Newborn Screening for X-Linked Adrenoleukodystrophy (X-ALD): Biochemical, Molecular, and Clinical Characteristics of Other Genetic Conditions;Genes;2024-06-26

2. Childhood Cerebral Adrenoleukodystrophy: Case Report and Literature Review Advocating for Newborn Screening;Degenerative Neurological and Neuromuscular Disease;2024-06

3. Current Status of Newborn Bloodspot Screening Worldwide 2024: A Comprehensive Review of Recent Activities (2020–2023);International Journal of Neonatal Screening;2024-05-23

4. Plasma C24:0- and C26:0-lysophosphatidylcholines are reliable biomarkers for the diagnosis of peroxisomal β-oxidation disorders;Journal of Lipid Research;2024-03

5. 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;Clinica Chimica Acta;2024-01

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