𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Potential pitfall of prenatal enzymatic diagnosis of carbamoyl-phosphate synthetase I deficiency

✍ Scribed by M. Yoshino; A. Nishiyori; Y. Koga; Y. Mizushima; H. Maeshiro; T. Inoue; S. Izumi; T. Hatase; M. Yakushiji; H. Kato


Book ID
110222897
Publisher
Springer
Year
1997
Tongue
English
Weight
6 KB
Volume
20
Category
Article
ISSN
0141-8955

No coin nor oath required. For personal study only.


πŸ“œ SIMILAR VOLUMES


Prenatal diagnosis of carbamoyl phosphat
✍ Ulrich Finckh; Alfried KohlschΓΌtter; HansjΓΆrg SchΓ€fer; Katja Sperhake; Jean-Pier πŸ“‚ Article πŸ“… 1998 πŸ› John Wiley and Sons 🌐 English βš– 597 KB

Carbamoyl phosphate synthetase I (CPS1) deficiency is an autosomal recessive metabolic disorder affecting the first enzymatic step of urea cycle. We report a consanguineous family in which the index patient died at 11 days of age from a severe form of CPS1 deficiency. Initial diagnosis was based on