Cystinuria, an Atypical Presentation and Challenges of Establishing its Diagnosis in a Poor Resource Set Up.
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DOI: 10.33314/jnhrc.v20i3.4175
Abstract: Cystinuria is an autosomal recessive defect in re-absorptive transport of amino acids: cysteine, ornithine, arginine and lysine from renal proximal convoluted tubules leading to urinary excretion of these amino acids. The phenotypic manifestations are recurrent… read more here.
Keywords: establishing diagnosis; poor resource; atypical presentation; diagnosis poor ... See more keywords