Propionic acidemia is a rare autosomal recessive inherited metabolic disorder that can inhibit the synthesis of N-acetylglutamate, the obligatory activator in urea synthesis, leading to hyperammonemia. N-carbamyl...
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Κυριακή 22 Απριλίου 2018
Long-term continuous N-carbamylglutamate treatment in frequently decompensated propionic acidemia: a case report
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