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Published in 2021 at "BMJ Case Reports"
DOI: 10.1136/bcr-2020-240147
Abstract: Alkaptonuria is a rare genetic disorder resulting in abnormality of tyrosine metabolism. It is one of the Garrod’s tetrad of ‘inborn errors of metabolism’ proposed to have Mendelian recessive inheritance. The disorder is characterised by…
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Keywords:
adolescent boy;
nephrology;
boy;
alkaptonuria adolescent ... See more keywords