๐”– Bobbio Scriptorium
โœฆ   LIBER   โœฆ

Diagnosis and high incidence of hyperornithinemia-hyperammonemia-homocitrullinemia (HHH) syndrome in northern Saskatchewan

โœ Scribed by Sokoro, AbdulRazaq A. H.; Lepage, Joyce; Antonishyn, Nick; McDonald, Ryan; Rockman-Greenberg, Cheryl; Irvine, James; Lehotay, Denis C.


Book ID
125356663
Publisher
Springer
Year
2010
Tongue
English
Weight
249 KB
Volume
33
Category
Article
ISSN
0141-8955

No coin nor oath required. For personal study only.


๐Ÿ“œ SIMILAR VOLUMES


Identification of novel mutations in the
โœ Alessandra Tessa; Giuseppe Fiermonte; Carlo Dionisi-Vici; Eleonora Paradies; Mat ๐Ÿ“‚ Article ๐Ÿ“… 2009 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 306 KB

Hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome is an autosomal recessive disorder of the urea cycle. With the exception of the French-Canadian founder effect, no common mutation has been detected in other populations. In this study, we collected 16 additional HHH cases and expande