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Early diagnosis of co-existent ß-thalassemia and alkaptonuria
Since the aggregate incidence of inborn errors of metabolism is relatively high, a high degree of suspicion is essential to correctly diagnose an inborn error of amino acid metabolism. We report a case of alkaptonuria an autosomal recessive disorder that occurs due to deficiency of homogentisic acid...
Tallennettuna:
| Päätekijät: | , |
|---|---|
| Aineistotyyppi: | Artigo |
| Kieli: | Inglês |
| Julkaistu: |
Medknow Publications & Media Pvt Ltd
2013
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| Aiheet: | |
| Linkit: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3758736/ https://ncbi.nlm.nih.gov/pubmed/24019631 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4103/0971-6866.116104 |
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