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- W2041168782 abstract "Since the aggregate incidence of inborn errors of metabolism is relatively high, a high degree of suspicion is essential to correctly diagnose an inborn error of amino acid metabolism. We report a case of alkaptonuria an autosomal recessive disorder that occurs due to deficiency of homogentisic acid oxidasein a β-thalassemia infant presenting with reddish discoloration of nappies and clothes, breath holding spells, and microcytic hypochromic anemia. Born to consanguineous cousins, to our knowledge, the combination of β-thalassemia and alkaptonuria, which we have described in this baby, has not been reported earlier." @default.
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- W2041168782 date "2013-01-01" @default.
- W2041168782 modified "2023-10-13" @default.
- W2041168782 title "Early diagnosis of co-existent ß-thalassemia and alkaptonuria" @default.
- W2041168782 doi "https://doi.org/10.4103/0971-6866.116104" @default.
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