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The estimated prevalence of homocystinuria in the United States is 1 in 100,000 to 200,000, but the actual prevalence may be much higher, due to the inaccuracy of the screening test

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Eur J Pediatr 175(7):10011006 Kurkina MV et al (2020) Molecular and biochemical study of glutaric aciduria type 1 in 49 Russian families: nine novel mutations in the GCDH gene

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