title: Hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome in adulthood: a rare recognizable condition.
authors.affiliation: Clinical Neurology, Section for Neuromuscular Diseases and Neuropathies, University Hospital "Spedali Civili", Pz.le Spedali Civili 1, 25100, Brescia, Italy, filosto@med.unibs.it.
authors.forename: Massimiliano
authors.initials: M
authors.lastname: Filosto
authors.forename: Antonella
authors.initials: A
authors.lastname: Alberici
authors.forename: Alessandra
authors.initials: A
authors.lastname: Tessa
authors.forename: Alessandro
authors.initials: A
authors.lastname: Padovani
authors.forename: Filippo M
authors.initials: FM
authors.lastname: Santorelli
mesh_terms: D000328:Adult; D000595:Amino Acid Sequence; D026923:Amino Acid Transport Systems, Basic / Q000737:chemistry / Q000235:genetics; D001483:Base Sequence; D006801:Humans; D022124:Hyperammonemia / Q000175:diagnosis* / Q000235:genetics* / Q000503:physiopathology; D008297:Male; D033681:Mitochondrial Membrane Transport Proteins; D008969:Molecular Sequence Data; D009154:Mutation; D009952:Ornithine / Q000172:deficiency* / Q000235:genetics; D056806:Urea Cycle Disorders, Inborn / Q000175:diagnosis* / Q000235:genetics* / Q000503:physiopathology
chemical_list: D026923:Amino Acid Transport Systems, Basic; D033681:Mitochondrial Membrane Transport Proteins; C442901:SLC25A15 protein, human; D009952:Ornithine