Retinal degeneration.
Morini
Chiara
C
Capozzi
Paolo
P
Boenzi
Sara
S
Rizzo
Cristiano
C
Santorelli
Filippo Maria
FM
Dionisi-Vici
Carlo
C
D000328:Adult; D026923:Amino Acid Transport Systems, Basic / Q000235:genetics; D002386:Cataract / Q000209:etiology; D002956:Citrulline / Q000031:analogs & derivatives* / Q000652:urine; D003241:Consanguinity; D003401:Creatine / Q000097:blood; D018753:Diet, Protein-Restricted; D005260:Female; D006801:Humans; D022124:Hyperammonemia / Q000097:blood / Q000150:complications* / Q000235:genetics; D008661:Metabolism, Inborn Errors / Q000097:blood / Q000150:complications* / Q000235:genetics; D033681:Mitochondrial Membrane Transport Proteins; D009952:Ornithine / Q000097:blood*; D012162:Retinal Degeneration / Q000175:diagnosis / Q000209:etiology*; D013577:Syndrome; D014786:Vision Disorders / Q000209:etiology
D026923:Amino Acid Transport Systems, Basic; D033681:Mitochondrial Membrane Transport Proteins; C442901:SLC25A15 protein, human; C001352:homocitrulline; D002956:Citrulline; D009952:Ornithine; D003401:Creatine