| Literature DB >> 11552031 |
S Salvi1, F M Santorelli, E Bertini, R Boldrini, C Meli, A Donati, A B Burlina, C Rizzo, M Di Capua, G Fariello, C Dionisi-Vici.
Abstract
The authors report the clinical and molecular findings in eight patients with hyperornithinemia, hyperammonemia, and homocitrullinuria (HHH) syndrome. The most consistent neurologic finding was spastic paraparesis, seen in five of the eight patients. However, all showed signs of pyramidal tract involvement. A broad spectrum of pathogenetic mutations (including missense, nonsense, splice site, insertion, and deletions) were identified in the ORNT1 gene.Entities:
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Year: 2001 PMID： 11552031 DOI： 10.1212/wnl.57.5.911
Source DB: PubMed Journal: Neurology ISSN： 0028-3878 Impact factor: 9.910