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Saudi aminoacidemias: A six-year study

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Abstract

More than 2,500 samples were analyzed and we found 135 abnormal amino acid patients in different categories. The major four diseases are: Maple syrup urine disease (MSUD), Phenylketonuria (PKU) both classical PKU due to L-phenylalanine hydroxylase deficiency and 6-pyruvoyl tetrahydropterin synthase (6PTPS) deficiency, homocystinuria and Tyrosinemia.

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Authors and Affiliations

  1. Department of Biological and Medical Research, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia

    S. B. Subramanyam

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  1. S. B. Subramanyam
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Subramanyam, S.B. Saudi aminoacidemias: A six-year study. Indian J Pediatr 63, 641–644 (1996). https://doi.org/10.1007/BF02730809

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