Tetrahydrobiopterin (Bh4) deficiencies: diagnosis and treatment
Tetrahydrobiopterin (BH4) is an enzyme cofactor of phenylalanine hydroxylase, tyrosine hydroxylase and tryptophan hydroxylase. Three different enzymes affect BH4 synthesis: guanosine triphosphate cyclohydrolase I (GTP CH 1), 6-piruvoil tetrahydropterin synthase (PTPS), sepiapterin reductase (SR) and...
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Instituto Nacional de Pediatría,
2014-07-01T00:00:00Z.
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A1234.567 |
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