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Summary
HYPERCYSTINURIA -> MOVED TO CYSTINURIA
HYPERCYSTINNURIA, ISOLATED
220100
OMIM = Online Medalian Inheritance of Men
214
unknown
rare
autosomal recessive
probably heterozygotes for cystinuria!
symptoms
Amino acids, urine
no consistent clinical signs or symptoms
onset, adolescent
onset, infancy
laboratory finding
Cystine1.007.1012.0048.00mmol/mol creatinineurine
Literature
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994