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UnknownN-acetylglutamate synthase deficiency: an insight into the genetics, epidemiology, pathophysiology, and treatment.
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S-EPMC3681184 | biostudies-literature
UnknownN-acetylglutamate synthase: structure, function and defects.
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S-EPMC2876818 | biostudies-literature
UnknownPrecision medicine in rare disease: Mechanisms of disparate effects of N-carbamyl-l-glutamate on mutant CPS1 enzymes.
Not available
S-EPMC5346444 | biostudies-literature
UnknownN-carbamylglutamate augments ureagenesis and reduces ammonia and glutamine in propionic acidemia.
Not available
S-EPMC3297024 | biostudies-literature
UnknownN-carbamylglutamate enhancement of ureagenesis leads to discovery of a novel deleterious mutation in a newly defined enhancer of the NAGS gene and to effective therapy.
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S-EPMC3976964 | biostudies-literature
UnknownHyperammonaemia in classic organic acidaemias: a review of the literature and two case histories.
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S-EPMC6282273 | biostudies-literature
UnknownConducting an investigator-initiated randomized double-blinded intervention trial in acute decompensation of inborn errors of metabolism: Lessons from the N-Carbamylglutamate Consortium.
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S-EPMC6311376 | biostudies-literature
UnknownPropionyl-CoA carboxylase - A review.
Not available
S-EPMC5725275 | biostudies-literature
UnknownProspective diagnosis of MT-ATP6-related mitochondrial disease by newborn screening.
Not available
S-EPMC8578202 | biostudies-literature
UnknownDisease-causing mutations in the promoter and enhancer of the ornithine transcarbamylase gene.
Not available
S-EPMC7388160 | biostudies-literature
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