Article
Clinical and molecular findings in hyperornithinemia-hyperammonemia-homocitrullinuria syndrome.
Neurology - 11 Sept 2001
Salvi S, Santorelli F M, Bertini E, Boldrini R, Meli C, Donati A, Burlina A B, Rizzo C, Di Capua M, Fariello G, Dionisi-Vici C
Abstract excerpt
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...
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