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Variant in the allosteric domain of CPS1 protein associated with effectiveness of N-carbamoyl glutamate therapy in neonatal onset CPS1 deficiency.
Gragnaniello, Vincenza; Gueraldi, Daniela; Puma, Andrea; Commone, Anna; Loro, Christian; Cazzorla, Chiara; Häberle, Johannes; Burlina, Alberto B.
Affiliation
  • Gragnaniello V; Division of Inherited Metabolic Diseases, Department of Diagnostic Services, University Hospital, Padua, Italy.
  • Gueraldi D; Division of Inherited Metabolic Diseases, Department of Diagnostic Services, University Hospital, Padua, Italy.
  • Puma A; Division of Inherited Metabolic Diseases, Department of Diagnostic Services, University Hospital, Padua, Italy.
  • Commone A; Division of Inherited Metabolic Diseases, Department of Diagnostic Services, University Hospital, Padua, Italy.
  • Loro C; Division of Inherited Metabolic Diseases, Department of Diagnostic Services, University Hospital, Padua, Italy.
  • Cazzorla C; Division of Inherited Metabolic Diseases, Department of Diagnostic Services, University Hospital, Padua, Italy.
  • Häberle J; Division of Metabolism and Children's Research Center, University Children's Hospital Zurich, Zurich, Switzerland.
  • Burlina AB; Division of Inherited Metabolic Diseases, Department of Diagnostic Services, University Hospital, Padua, Italy.
J Pediatr Endocrinol Metab ; 36(9): 873-878, 2023 Sep 26.
Article in En | MEDLINE | ID: mdl-37427576
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Full text: 1 Database: MEDLINE Main subject: Carbamoyl-Phosphate Synthase I Deficiency Disease / Urea Cycle Disorders, Inborn Type of study: Risk_factors_studies Language: En Journal: J Pediatr Endocrinol Metab Year: 2023 Type: Article Affiliation country: Italy
Fulltext
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Full text: 1 Database: MEDLINE Main subject: Carbamoyl-Phosphate Synthase I Deficiency Disease / Urea Cycle Disorders, Inborn Type of study: Risk_factors_studies Language: En Journal: J Pediatr Endocrinol Metab Year: 2023 Type: Article Affiliation country: Italy