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Quick Diagnosis of Alkaptonuria by Homogentisic Acid Determination in Urine Paper Spots
Objectives: Two methods are described for homogentisic acid (HGA) determination in dried urine spots (DUS) on paper from Alkaptonuria (AKU) patients, devised for quick early diagnosis. AKU is a rare autosomal recessive disorder caused by deficiency of homogentisate 1,2-dioxygenase, yielding in accum...
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| 發表在: | JIMD Rep |
|---|---|
| Main Authors: | , , , , |
| 格式: | Artigo |
| 語言: | Inglês |
| 出版: |
Springer Berlin Heidelberg
2016
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| 主題: | |
| 在線閱讀: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5388646/ https://ncbi.nlm.nih.gov/pubmed/27074788 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2016_554 |
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