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Female heterozygotes may be hard to diagnose because of X-chromosome mosaicism leading to a partial deficiency that will not be detected reliably with screening tests

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This involves the free thiol cysteamine, which can deplete approximately 95% of the lysosomal cystine content

[DOI] [PMC free article] [PubMed] [Google Scholar] [65].Horowitz RI, Freeman PR, Bruzzese J