Total: 1 |
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PMID (PMCID) | ||
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25707023 |
MALE | |
Thiamine responsive megaloblastic anemia syndrome: a novel homozygous SLC19A2 gene mutation identified. | ||
Mikstiene V, Songailiene J, Byckova J, Rutkauskiene G, Jasinskiene E, Verkauskiene R, Lesinskas E, Utkus A. Am J Med Genet A. 2015;167(7):1605-9. |
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The patient had insulin dependent diabetes (onset 11 months), respiratory illness (onset 11 months), bilateral profound hearing loss (onset at 7 months, verified at 20 months), refractory anemia (onset 2 years), and decreased vision acuity and photophobia (onset 2.5 years). |