doi: 10.1007/BF02730809.
Saudi aminoacidemias: a six-year study
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- PMID: 10830032
- DOI: 10.1007/BF02730809
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Saudi aminoacidemias: a six-year study
Indian J Pediatr.
1996 Sep-Oct.
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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