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Editorial Office, Journal of Clinical Genetics and Genomics, UK

Publications

  • Opinion   
    The X-Factor: Adrenoleukodys trophy Newborn Screening in the Netherlands
    Author(s): Beatrix Potter*

    A terrible metabolic illness that affects the brain, spinal cord, and adrenal glands is called X-linked Adrenoleukodystrophy (ALD). The likelihood of acquiring adrenal insufficiency or progressive cerebral white matter lesions (cerebral ALD) in males with ALD is significant. ALD of the brain can be deadly if left untreated. Adrenal insufficiency and cerebral ALD are not risk factors for ALD in women. Male newborn screening for ALD offers immediate therapeutic intervention and prospective monitoring, preventing irreparable harm and saving lives. The recommendation of the Dutch Health Council to include a newborn screening panel for ALD that is only for males was implemented by the Dutch Ministry of Health. The Dutch Health Council's advice to just test boys without collecting any uninvited information presented a problem. We received an invitation to establish the SCAN trial, a pro.. Read More»
    DOI: 10.37532/puljcgg.22.5(3) 1-2

 
Google Scholar citation report
Citations : 24

Journal of Clinical Genetics and Genomics received 24 citations as per Google Scholar report

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