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Abnormal urinary excretion of polyamines in HHH syndrome (hyperornithinemia associated with hyperammonemia and homocitrullinuria)

โœ Scribed by Maekawa, Kihei; Eto, Yoshikatsu; Shimizu, Hirofumi


Book ID
122717555
Publisher
Elsevier Science
Year
1990
Tongue
English
Weight
353 KB
Volume
12
Category
Article
ISSN
0387-7604

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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