| 单词 |
thiamine-responsive megaloblastic anaemia syndrome |
| 释义 |
thiamine-responsive megaloblastic anaemia syndrome thiamine-responsive megaloblastic anaemia syndrome An autosomal recessive disorder (OMIM:249270) characterised by megaloblastic anaemia, mild thrombocytopaenia and leukopaenia, sensorineural deafness, and diabetes mellitus.
Molecular pathology
Defects of SLC19A2, which encodes a high-affinity thiamine transporter, cause thiamine-responsive megaloblastic anaemia. |
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