TY  - GEN
AU  - Pomahačová,Renata
AU  - Zamboryová,Jana
AU  - Sýkora,Josef
AU  - Paterová,Petra
AU  - Fiklík,Karel
AU  - Votava,Tomáš
AU  - Černá,Zdeňka
AU  - Jehlička,Petr
AU  - Lád,Václav
AU  - Šubrt,Ivan
AU  - Dort,Jiří
AU  - Dortová,Eva
TI  - 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
SN  - 1399-5448
PY  - 2018///0712
KW  - Anemia, Megaloblastic
KW  - genetics
KW  - Child, Preschool
KW  - Czech Republic
KW  - Diabetes Mellitus
KW  - Female
KW  - Hearing Loss, Sensorineural
KW  - Humans
KW  - Infant
KW  - Membrane Transport Proteins
KW  - Mutation
KW  - Thiamine Deficiency
KW  - congenital
N1  - Publication Type: Case Reports; Journal Article
UR  - https://doi.org/10.1111/pedi.12479
ER  -