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Detection of alkaptonuria in a 1-week-old infant
Alkaptonuria is a rare disorder that results from an inherited deficiency of aromatic amino acid metabolism. Only 21% of the children under the age of 1 year having the disease are identified in clinics. We report a case of a 1-week-old child of a first-degree consanguineous couple with a symptom of...
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| Veröffentlicht in: | BMJ Case Rep |
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| Hauptverfasser: | , , , |
| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
BMJ Publishing Group
2015
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| Schlagworte: | |
| Online Zugang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4434267/ https://ncbi.nlm.nih.gov/pubmed/25956497 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bcr-2014-208505 |
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