Clinical and molecular findings in hyperornithinemia-hyperammonemia-homocitrullinuria syndrome

S. Salvi; F. M. Santorelli; E. Bertini; R. Boldrini; C. Meli; A. Donati; A. B. Burlina; C. Rizzo; M. Di Capua; G. Fariello; Carlo Dionisi-Vici

Clinical and molecular findings in hyperornithinemia-hyperammonemia-homocitrullinuria syndrome

S. Salvi, F. M. Santorelli, E. Bertini, R. Boldrini, C. Meli, A. Donati, A. B. Burlina, C. Rizzo, M. Di Capua, G. Fariello, Carlo Dionisi-Vici

Research output: Contribution to journal › Article › peer-review

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.

Original language	English
Pages (from-to)	911-914
Number of pages	4
Journal	Neurology
Volume	57
Issue number	5
Publication status	Published - Sep 11 2001

ASJC Scopus subject areas

Neuroscience(all)

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Clinical and molecular findings in hyperornithinemia-hyperammonemia-homocitrullinuria syndrome. / 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, Carlo.

In: Neurology, Vol. 57, No. 5, 11.09.2001, p. 911-914.

Research output: Contribution to journal › Article › peer-review

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AU - Boldrini, R.

AU - Meli, C.

AU - Donati, A.

AU - Burlina, A. B.

AU - Rizzo, C.

AU - Di Capua, M.

AU - Fariello, G.

AU - Dionisi-Vici, Carlo

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N2 - 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.

AB - 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.

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Clinical and molecular findings in hyperornithinemia-hyperammonemia-homocitrullinuria syndrome

Abstract

ASJC Scopus subject areas

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