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Article

Thiamine-responsive megaloblastic anaemia.

The National medical journal of India - 1 Jan 2000

Veetil Vimal Mavila, Pachat Divya, Nikitha K, Kutty Jesheera Mohammed

Abstract excerpt

We report a 26-year-old girl who was diagnosed with diabetes mellitus in her childhood and was treated with insulin. With a history of visual disturbances during her childhood and anaemia, which was partially evaluated; the possibility of syndromic diabetes was considered. Genetic analysis was done and revealed a mutation in the SLC19A2 gene, confirming the diagnosis of thiamine-responsive megaloblastic anaemia....

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Identifiers

PMID: 38759983
DOI: 10.25259/NMJI_20_21

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