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Pin-Wen Chen

National Taiwan University - National Taiwan University Hospital (NTUH)

Taipei,

Taiwan

  • National Taiwan University - National Taiwan University Hospital (NTUH)

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Scholarly Papers (1)

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High Incidence of Null Variants Identified from Newborn Screening of X-Linked Adrenoleukodystrophy in Taiwan

Number of pages: 21 Posted: 01 Jul 2022
Hui-An Chen, Rai-Hseng Hsu, Pin-Wen Chen, Ni-Chung Lee, Pao-Chin Chiu, Wuh-Liang Hwu and Yin-Hsiu Chien
National Taiwan University - National Taiwan University Hospital (NTUH), National Taiwan University - National Taiwan University Hospital (NTUH), National Taiwan University - National Taiwan University Hospital (NTUH), National Taiwan University - National Taiwan University Hospital (NTUH), Kaohsiung Veterans General Hospital, National Taiwan University - National Taiwan University Hospital (NTUH) and National Taiwan University - Department of Medical Genetics
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Abstract:

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Adrenoleukodystrophy, newborn screening, ABCD1, tandem mass analysis, C26:0-LPC, null variant