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

BACKGROUND: 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...

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Detalles Bibliográficos
Autores principales: Chen, Hui-An, Hsu, Rai-Hseng, Chen, Pin-Wen, Lee, Ni-Chung, Chiu, Pao-Chin, Hwu, Wuh-Liang, Chien, Yin-Hsiu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2022
Materias:
Research Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9421440/
https://www.ncbi.nlm.nih.gov/pubmed/36046390
http://dx.doi.org/10.1016/j.ymgmr.2022.100902

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9421440/
https://www.ncbi.nlm.nih.gov/pubmed/36046390
http://dx.doi.org/10.1016/j.ymgmr.2022.100902

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