Hypocupremic infant associated with mental retardation and hepatic cirrhosis: probably a copper malabsorption syndrome.
D000596:Amino Acids / Q000097:blood; D001786:Blood Glucose / Q000032:analysis; D001798:Blood Proteins / Q000032:analysis; D002570:Ceruloplasmin / Q000097:blood; D002784:Cholesterol / Q000097:blood; D003300:Copper / Q000097:blood* / Q000378:metabolism* / Q000652:urine; D004573:Electrolytes / Q000097:blood; D004586:Electrophoresis; D004958:Estradiol; D005243:Feces / Q000032:analysis; D005260:Female; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000150:complications*; D008099:Liver / Q000473:pathology; D008103:Liver Cirrhosis / Q000150:complications*; D008111:Liver Function Tests; D008286:Malabsorption Syndromes / Q000150:complications*; D010743:Phospholipids / Q000097:blood; D014527:Uric Acid / Q000097:blood
D000596:Amino Acids; D001786:Blood Glucose; D001798:Blood Proteins; D004573:Electrolytes; D010743:Phospholipids; D014527:Uric Acid; D004958:Estradiol; D003300:Copper; D002784:Cholesterol; D002570:Ceruloplasmin