๐”– Bobbio Scriptorium
โœฆ   LIBER   โœฆ

Hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome with evidence of mitochondrial dysfunction due to a novel SLC25A15 (ORNT1) gene mutation in a Palestinian family

โœ Scribed by Stanley H. Korman; Naomi Kanazawa; Bassam Abu-Libdeh; Alisa Gutman; Seiichi Tsujino


Book ID
119301318
Publisher
Elsevier Science
Year
2004
Tongue
English
Weight
331 KB
Volume
218
Category
Article
ISSN
0022-510X

No coin nor oath required. For personal study only.


๐Ÿ“œ SIMILAR VOLUMES


Seven novel mutations in the ORNT1 gene
โœ S. Salvi; C. Dionisi-Vici; E. Bertini; M. Verardo; F.M. Santorelli ๐Ÿ“‚ Article ๐Ÿ“… 2001 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 122 KB

Eight unrelated Italian patients with the hyperornithinemia, hyperammonemia, and homocitrullinuria (HHH) syndrome were analyzed for mutations in the ORNT1 gene. Seven novel mutations were identified (Q89X, G27R, G190D, R275Q, c.861insG, c.164insA, and IVS5+1Gโ†’ โ†’ A). Other previously described varian

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