TY  - GEN
AU  - Mikstiene,Violeta
AU  - Songailiene,Jurgita
AU  - Byckova,Jekaterina
AU  - Rutkauskiene,Giedre
AU  - Jasinskiene,Edita
AU  - Verkauskiene,Rasa
AU  - Lesinskas,Eugenijus
AU  - Utkus,Algirdas
TI  - Thiamine responsive megaloblastic anemia syndrome: a novel homozygous SLC19A2 gene mutation identified
SN  - 1552-4833
PY  - 2016///0317
KW  - Anemia, Megaloblastic
KW  - drug therapy
KW  - Base Sequence
KW  - Child, Preschool
KW  - Diabetes Mellitus
KW  - Hearing Loss, Sensorineural
KW  - Homozygote
KW  - Humans
KW  - Lithuania
KW  - Male
KW  - Membrane Transport Proteins
KW  - genetics
KW  - Molecular Sequence Data
KW  - Mutation, Missense
KW  - Sequence Analysis, DNA
KW  - Thiamine
KW  - therapeutic use
KW  - Thiamine Deficiency
KW  - congenital
KW  - Treatment Outcome
N1  - Publication Type: Case Reports; Journal Article
UR  - https://doi.org/10.1002/ajmg.a.37015
ER  -