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Primapterinuria: A New Variant of Atypical Phenylketonuria

✍ Scribed by N. Blau,H. Ch. Curtius,Th. Kuster,A. Matasovic…


Book ID
126336830
Publisher
Springer
Year
1989
Tongue
English
Weight
557 KB
Volume
12
Category
Article
ISSN
0141-8955

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Amniocentesis was performed at 19 weeks gestation in a mother who had previously delivered a boy with "dihydrobiopterin synthetase" (DHBS) deficiency. The amniotic fluid contained neopterin in high (136 nmol/1) and biopterin in very low concentrations (1.8 nmol/1). The activity of the phosphate-elim