Carbaglu
National Institutes of Health
Papers overview
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Inborn defects in the carbamoylphosphate synthase 1 (CPS1) cause a reduction of N‐acetylglutamate (NAG), an essential cofactor…
Background: The resting energy expenditure (REE) in children is well investigated and has been clearly defined by the WHO in…
N-acetylglutamate synthase (NAGS) deficiency is a very rare inborn error of metabolism. Over the last 20 years, between 1980 and…