gptkb:adult-onset_type_II_citrullinemia
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elevated citrulline
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gptkb:Wilson_disease
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increased urinary copper excretion
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gptkb:Wilson_disease
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high hepatic copper
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gptkb:Syndromic_Hyperinsulinism-Hyperammonemia
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elevated plasma ammonia
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gptkb:glycine_encephalopathy
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high glycine levels in body fluids
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gptkb:adult-onset_type_II_citrullinemia
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elevated ammonia
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gptkb:gyrate_atrophy_of_choroid_and_retina
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elevated plasma ornithine
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gptkb:Wilson_disease
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low ceruloplasmin
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gptkb:cerebrotendinous_xanthomatosis
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bile alcohols in urine
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gptkb:cerebrotendinous_xanthomatosis
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elevated cholestanol
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gptkb:Citrullinemia_type_II
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elevated citrulline
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gptkb:cerebrotendinous_xanthomatosis
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low chenodeoxycholic acid
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gptkb:Citrullinemia_type_II
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elevated ammonia
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gptkb:Nonketotic_Hyperglycinemia
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elevated glycine in cerebrospinal fluid
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gptkb:GABA-transaminase_deficiency
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elevated GABA levels in CSF and urine
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gptkb:Nonketotic_Hyperglycinemia
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elevated glycine in plasma
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gptkb:Syndromic_Hyperinsulinism-Hyperammonemia
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elevated insulin
|