Selective screening of amino acid disorders in the south-west of Iran, Shiraz

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Abstract

A diagnostic study of amino acid concentrations in dried blood spot samples from 1044 symptomatic children revealed high incidences of phenylketonuria, tyrosinaemias, and maple syrup urine disease in the Shiraz region of Iran. Minimum incidences, based on babies born between 1996 and 2001 inclusive, and diagnosed by the end of 2001, are 1:3672, 1:10651 and 1:21 303, respectively.

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Golbahar, J., Karamizadeh, Z., & Honardar, Z. (2002). Selective screening of amino acid disorders in the south-west of Iran, Shiraz. Journal of Inherited Metabolic Disease, 25(6), 519–521. https://doi.org/10.1023/A:1021219805921

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