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Summary
HYPERCYSTINURIA
HYPERCYSTINNURIA, ISOLATED
238200
OMIM = Online Medalian Inheritance of Men
214
unknown
rare
autosomal recessive
probably heterozygotes for cystinuria!
symptoms
Amino acids, urine
no clinical signs or symptoms
laboratory finding
Cystine 12.0048.00increasedurine
Literature
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994