๐”– Bobbio Scriptorium
โœฆ   LIBER   โœฆ

ATYPICAL PHENYLKETONURIA DUE TO DIHYDROBIOPTERIN SYNTHETASE DEFICIENCY

Book ID
114909132
Publisher
John Wiley and Sons
Year
2009
Tongue
English
Weight
182 KB
Volume
38
Category
Article
ISSN
0029-6643

No coin nor oath required. For personal study only.

๐Ÿ“œ SIMILAR VOLUMES

Prenatal diagnosis of โ€œdihydrobiopterin
Prenatal diagnosis of โ€œdihydrobiopterin synthetaseโ€ deficiency, a variant form of phenylketonuria
โœ A. Niederwieser; H. Shintaku; Th. Hasler; H. Ch. Curtius; H. Lehmann; O. Guardam ๐Ÿ“‚ Article ๐Ÿ“… 1986 ๐Ÿ› Springer ๐ŸŒ English โš– 307 KB

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