First 2 cases with thiamine-responsive megaloblastic anemia in the Czech Republic, a rare form of monogenic diabetes mellitus: a novel mutation in the thiamine transporter SLC19A2 gene-intron 1 mutation c.204+2T>G.

Pomahačová, Renata

First 2 cases with thiamine-responsive megaloblastic anemia in the Czech Republic, a rare form of monogenic diabetes mellitus: a novel mutation in the thiamine transporter SLC19A2 gene-intron 1 mutation c.204+2T>G. [electronic resource] - Pediatric diabetes Dec 2017 - 844-847 p. digital

Publication Type: Case Reports; Journal Article

1399-5448

10.1111/pedi.12479 doi


Anemia, Megaloblastic--genetics
Child, Preschool
Czech Republic
Diabetes Mellitus--genetics
Female
Hearing Loss, Sensorineural--genetics
Humans
Infant
Membrane Transport Proteins--genetics
Mutation
Thiamine Deficiency--congenital