Long-term survival of a patient with acute neonatal-onset metabolic encephalopathy with carbamoyl phosphate synthetase 1 deficiency.
Sign Up to like & getrecommendations! Published in 2020 at "European review for medical and pharmacological sciences"
DOI: 10.26355/eurrev_202010_23220
Abstract: OBJECTIVE Long-term survival of patients with neonatal-onset carbamoyl-phosphate synthetase 1 deficiency (CPS1D), an autosomal recessive disorder characterized by repeated, life-threatening hyperammonemia, is rare. We describe the diagnosis and clinical management of a teenager with neonatal-onset… read more here.
Keywords: neonatal onset; carbamoyl phosphate; phosphate synthetase; long term ... See more keywords
Analysis of Enzyme Activity and Cellular Function for the N80S and S480F Asparagine Synthetase Variants Expressed in a Child with Asparagine Synthetase Deficiency
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DOI: 10.3390/ijms24010559
Abstract: Asparagine Synthetase Deficiency (ASNSD) is a disease caused by mutations in asparagine synthetase (ASNS). Newborns exhibit microcephaly, intractable epileptic-like seizures, progressive brain atrophy, and axial hypotonia. ASNSD results in global developmental delays and premature death.… read more here.
Keywords: synthetase deficiency; asparagine synthetase; synthetase; enzyme activity ... See more keywords