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Pancytopenia in an adult patient with thiamine-responsive megaloblastic anaemia
Thiamine-responsive megaloblastic anaemia (TRMA) is a syndrome associated with megaloblastic anaemia, diabetes mellitus and sensorineural deafness, due to mutations in the SLC19A2 gene, which codes for a thiamine carrier protein. Oral thiamine supplementation is the main treatment. We report the cas...
保存先:
| 出版年: | BMJ Case Rep |
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| 主要な著者: | , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
BMJ Publishing Group
2018
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6011530/ https://ncbi.nlm.nih.gov/pubmed/29903777 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bcr-2018-225035 |
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