𝔖 Bobbio Scriptorium
✦   LIBER   ✦

A new DEL variant caused by exon 8 deletion

✍ Scribed by Martine Richard; Josée Perreault; Jessica Constanzo-Yanez; Samir Khalifé; Maryse St-Louis


Book ID
109143588
Publisher
Elsevier Science
Year
2007
Tongue
English
Weight
213 KB
Volume
47
Category
Article
ISSN
0372-1248

No coin nor oath required. For personal study only.


📜 SIMILAR VOLUMES


Neonatal hyperphenylalaninaemia presumab
✍ J. L. Dhondt; P. Guibaud; M. O. Rolland; C. Dorche; S. Andre; G. Forzy; J. M. Ha 📂 Article 📅 1988 🏛 Springer 🌐 English ⚖ 407 KB

Systematic investigation of hyperphenylalaninaemic infants for tetrahydrobiopterin deficiency has recently led to the description of new variants of cofactor deficiency. In the present case, the initial observation was of hyperphenylalaninaemia with a significant increase in the neopterin to biopter