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[Clinical diagnosis and treatment of three cases with hyperornithinemia-hyperammonemia-homocitrullinuria syndrome].

Zhonghua er ke za zhi = Chinese journal of pediatrics - 2 Jun 2017

Guan H Z, Ding Y, Li D X, Dong H, Song J Q, Jin Y, Zhu Z J, Sun L Y, Yang Y L

Abstract excerpt

Objective: To study the clinical characteristics, methods of diagnosis and treatment of hyperornithinemia-hyperammonemia- homocitrullinuria (HHH) syndrome. Method: From July 2011 to August 2016, 3 Chinese patients with HHH syndrome were enrolled in this study. The clinical course, biochemical features, brain MRI findings, and gene mutations were analyzed. Result: The three patients' age at onset of symptoms was 3...

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PMID: 28592010
DOI: 10.3760/cma.j.issn.0578-1310.2017.06.007

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