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