A novel GTPCH deficiency mouse model exhibiting tetrahydrobiopterin-related metabolic disturbance and infancy-onset motor impairments.
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DOI: 10.1016/j.metabol.2019.02.001
Abstract: BACKGROUND GTP cyclohydrolase I (GTPCH) deficiency could impair the synthesis of tetrahydrobiopterin and causes metabolic diseases involving phenylalanine catabolism, neurotransmitter synthesis, nitric oxide production and so on. Though improvements could be achieved by tetrahydrobiopterin and… read more here.
Keywords: gtpch deficiency; homozygous mutants; motor impairments; infancy onset ... See more keywords