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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...

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Dades bibliogràfiques
Publicat a:BMJ Case Rep
Autors principals: Moulin, Virginie, Grandoni, Francesco, Castioni, Julien, Lu, Henri
Format: Artigo
Idioma:Inglês
Publicat: BMJ Publishing Group 2018
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Accés en línia: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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