No abstract available
MeSH terms
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Adult
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Amino Acid Transport Systems, Basic / genetics
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Cataract / etiology
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Citrulline / analogs & derivatives*
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Citrulline / urine
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Consanguinity
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Creatine / blood
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Diet, Protein-Restricted
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Female
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Humans
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Hyperammonemia / blood
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Hyperammonemia / complications*
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Hyperammonemia / genetics
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Metabolism, Inborn Errors / blood
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Metabolism, Inborn Errors / complications*
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Metabolism, Inborn Errors / genetics
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Mitochondrial Membrane Transport Proteins
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Ornithine / blood*
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Retinal Degeneration / diagnosis
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Retinal Degeneration / etiology*
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Syndrome
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Vision Disorders / etiology
Substances
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Amino Acid Transport Systems, Basic
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Mitochondrial Membrane Transport Proteins
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SLC25A15 protein, human
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homocitrulline
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Citrulline
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Ornithine
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Creatine