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A case of 6-pyruvoyl-tetrahydropterin synthase deficiency after screening 1 500 000 newborns in Greece

✍ Scribed by K. H. Schulpis; A. Covanis; M. Loumakou; N. Frantzis; O. Papandreou; A. Divolli; S. Missiou-Tsagaraki; L Kierat; N. Blau


Book ID
112630995
Publisher
Springer
Year
1991
Tongue
English
Weight
173 KB
Volume
14
Category
Article
ISSN
0141-8955

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The enzyme 6-Pyruvoyl-tetrahydropterin synthase (PTS) deficiency is the major cause of BH 4 -deficient HPA. The frequency of BH 4 -deficient HPA was estimated to be around 30% among Chinese HPA population in Taiwan, which is much higher than that in Caucasian population (1.5-2% of HPA). Approximatel