Cystinosis. Combined clinical staff conference at the National Institutes of Health.
D000592:Amino Acid Metabolism, Inborn Errors; D001706:Biopsy; D001853:Bone Marrow / Q000473:pathology; D002648:Child; D012080:Chronic Kidney Disease-Mineral and Bone Disorder / Q000175:diagnosis; D003315:Cornea / Q000473:pathology; D003461:Crystallography; D003554:Cystinosis / Q000175:diagnosis / Q000188:drug therapy; D003555:Cystinuria / Q000175:diagnosis; D003937:Diagnosis, Differential; D004035:Diet Therapy; D005198:Fanconi Syndrome / Q000175:diagnosis; D005260:Female; D005347:Fibroblasts; D006029:Glycosuria / Q000175:diagnosis; D006801:Humans; D007015:Hypophosphatemia, Familial; D007962:Leukocytes; D010396:Penicillamine / Q000627:therapeutic use; D011141:Polyuria / Q000175:diagnosis; D012160:Retina / Q000473:pathology; D014511:Uremia / Q000175:diagnosis
D010396:Penicillamine