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PAICS deficiency

MONDO:0859003

1 clinical trial for this condition and its sub-types.

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Broader categories

Disease (680) Metabolic disease (233) Hereditary disease (176) Inborn errors of metabolism (45) Human disease (14) Disease of genetic or genomic mechanism (2) Inborn disorder of purine or pyrimidine metabolism (1) Disease by developmental or physiological process (0) Disease by etiologic mechanism (0) Inborn disorder of purine metabolism (0)
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  • Scientists launch major study to unravel mysterious metabolism disorders

    Knowledge-focused Recruiting now

    This study aims to learn more about rare disorders that affect how the body processes chemicals called pyrimidines and purines. These disorders can cause problems in the brain, blood, kidneys, and immune system, ranging from mild to life-threatening. Researchers will compare test…

    Sponsor: National Human Genome Research Institute (NHGRI) • Aim: Knowledge-focused

    Last updated Aug 12, 2026 00:00 UTC

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