Genetic, structural and biochemical basis of carbamoyl phosphate synthetase 1 deficiency

Molecular Genetics and Metabolism

Volumn 101, Issue 4, 2010, Pages 311-323

  Martínez, Ana Isabel ^a   Pérez Arellano, Isabel ^a,b   Pekkala, Satu ^a   Barcelona, Belén ^a   Cervera, Javier ^a,b  

^a CENTRO DE INVESTIGACIÓN PRÍNCIPE FELIPE   (Spain)

^b CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED DE ENFERMEDADES RARAS CIBERER   (Spain)

Author keywords

CPS1 deficiency; Hyperammonemia; Inborn metabolic errors; Mutation; Polymorphism; Urea cycle

Indexed keywords

BACTERIAL ENZYME; BICARBONATE; CARBAMOYL PHOSPHATE SYNTHASE; COMPLEMENTARY DNA; RECOMBINANT ENZYME; RNA; UREA; VALPROIC ACID;

CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY; CATALYSIS; CLINICAL FEATURE; ENZYME ACTIVITY; ENZYME DEFICIENCY; ENZYME PHOSPHORYLATION; ESCHERICHIA COLI; GENE EXPRESSION; GENE MUTATION; HUMAN; HYPERAMMONEMIA; LIVER; MISSENSE MUTATION; NEUROLOGICAL COMPLICATION; NONHUMAN; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN DOMAIN; PROTEIN STRUCTURE; REVIEW; UREA CYCLE;

CARBAMOYL-PHOSPHATE SYNTHASE (AMMONIA); HUMANS; PROTEIN STRUCTURE, TERTIARY; UREA CYCLE DISORDERS, INBORN;

ESCHERICHIA COLI;

EID: 78649321933     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2010.08.002     Document Type: Review

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