Carbamyl phosphate synthetase 1 deficiency: A destructive encephalopathy

Author:

Takeoka Masanori,Soman Teesta B,Shih Vivian E,Caviness Verne S,Krishnamoorthy Kalpathy S

Publisher

Elsevier BV

Subject

Neurology (clinical),Developmental Neuroscience,Neurology,Pediatrics, Perinatology and Child Health

Reference24 articles.

1. Brusilow SW, Horowich AL. Urea cycle enzymes. In: Scriver CR, Beadet AL, Sly WS, Valle D, eds. The metabolic and molecular basis of inherited disease, 7th ed. New York: McGraw-Hill, 1997:1187–232.

2. A lethal neonatal variant of carbamoyl-phosphate synthetase deficiency in combination with an intermediate activity of L-ornithine;van der Heiden;Clin Genet,1983

3. Neonatal hyperammonaemia with complete absence of liver carbamyl phosphate synthetase activity;Mantagos;Arch Dis Child,1978

4. Metabolic stroke in carbamyl phosphate synthetase deficiency;Sperl;Neuropediatrics,1997

5. Assignment of the human carbamyl phosphate synthetase I gene (CPS1) to 2q35 by fluorescence in situ hybridization;Hoshide;Genomics,1995

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