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arginine hydrochloride/atrophy

Veza se sprema u međuspremnik
ČlanciKlinička ispitivanjaPatenti
2 rezultatima
N-acetylglutamate synthase (NAGS) deficiency is a rare urea cycle disorder. Most of the patients present in the early neonatal period with severe hyperammonaemia and marked neurological impairment. We report on a Turkish family with an index patient, who died due to hyperammonemia, and another three
BACKGROUND N-Acetylglutamate synthase (NAGS) deficiency is a rare urea cycle disorder, which may present in the neonatal period with severe hyperammonemia and marked neurological impairment. METHODS We report on a Turkish family with a patient who died due to hyperammonemia in the neonatal period.
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