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指甲、耳软骨出...、尿黑酸、色汗
Alkaptonuria in children is AR homogentisate oxidase deficiency; dark urine on standing; ochronosis; joint disease; adulthood; diet; pediatric metabolic/genetics.
Dark urine on standing; child; ochronosis (adult); joint disease; AR; homogentisic acid
HGD mutation; AR; homogentisate oxidase deficiency; alkaptonuria.
Diet low protein; nitisinone selected; orthopedic; pediatric metabolic/genetics; lifelong
Pediatrics / metabolic / genetics / rheumatology.
Warm reminder: Health education reference only; seek care at regular hospital.
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