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CUGC for hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome.
Martinelli, Diego; Fiermonte, Giuseppe; Häberle, Johannes; Boenzi, Sara; Goffredo, Bianca Maria; Travaglini, Lorena; Agolini, Emanuele; Porcelli, Vito; Dionisi-Vici, Carlo.
Affiliation
  • Martinelli D; Division of Metabolism and Research Unit of Metabolic Biochemistry, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy. diego.martinelli@opbg.net.
  • Fiermonte G; Department of Biosciences, Biotechnologies and Biopharmaceutics, University of Bari, Bari, Italy.
  • Häberle J; Division of Metabolism and Children's Research Center, University Children's Hospital Zurich, Zurich, Switzerland.
  • Boenzi S; Division of Metabolism and Research Unit of Metabolic Biochemistry, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Goffredo BM; Division of Metabolism and Research Unit of Metabolic Biochemistry, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Travaglini L; Unit of Neuromuscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Agolini E; Molecular Genetics Laboratory, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Porcelli V; Department of Biosciences, Biotechnologies and Biopharmaceutics, University of Bari, Bari, Italy.
  • Dionisi-Vici C; Division of Metabolism and Research Unit of Metabolic Biochemistry, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy. carlo.dionisivici@opbg.net.
Eur J Hum Genet ; 28(7): 982-987, 2020 07.
Article in En | MEDLINE | ID: mdl-32242103
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Ornithine / Genetic Testing / Hyperammonemia / Urea Cycle Disorders, Inborn Type of study: Diagnostic_studies / Prognostic_studies Limits: Humans Language: En Journal: Eur J Hum Genet Journal subject: GENETICA MEDICA Year: 2020 Document type: Article Affiliation country: Italy
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Ornithine / Genetic Testing / Hyperammonemia / Urea Cycle Disorders, Inborn Type of study: Diagnostic_studies / Prognostic_studies Limits: Humans Language: En Journal: Eur J Hum Genet Journal subject: GENETICA MEDICA Year: 2020 Document type: Article Affiliation country: Italy