research Pili torti in association with citrullinemia
This report presents a case of pili torti in a young girl with citrullinemia, a novel association not previously documented.
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2 / 26 resultsresearch Two Hypomorphic Alleles of Mouse Ass1 as a New Animal Model of Citrullinemia Type I and Other Hyperammonemic Syndromes
This study reports that hypomorphic alleles of the Ass1 gene in mice resemble human CTLN1, providing a potential model for preclinical studies and indicating that standard treatments for CTLN1 can rescue phenotypes.
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