Showing results 1 to 4 of 4
Title | Author(s) | Issue Date | |
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Arginase deficiency with new phenotype and a novel mutation: Contemporary Summary Journal:Pediatric Neurology | 2012 | ||
Biochemical and molecular characterization of tyrosine hydroxylase deficiency in Hong Kong Chinese Journal:Molecular Genetics and Metabolism | 2010 | ||
Complete recovery from acute encephalopathy of late-onset ornithine transcarbamylase deficiency in a 3-year-old boy. Journal:Journal of inherited metabolic disease | 2007 | ||
Lathosterolosis: A Disorder Of Cholesterol Biosynthesis Resembling Smith-lemli-opitz Syndrome Journal:Journal Of Inherited Metabolic Disease | 2014 |