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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...

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Bibliografiset tiedot
Päätekijät: Lodh, Moushumi, Kerketta, Joshi A.
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Medknow Publications & Media Pvt Ltd 2013
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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