TY  - GEN
AU  - Shaw-Smith,Charles
AU  - Flanagan,Sarah E
AU  - Patch,Ann-Marie
AU  - Grulich-Henn,Juergen
AU  - Habeb,Abdelhadi M
AU  - Hussain,Khalid
AU  - Pomahacova,Renata
AU  - Matyka,Krystyna
AU  - Abdullah,Mohamed
AU  - Hattersley,Andrew T
AU  - Ellard,Sian
TI  - Recessive SLC19A2 mutations are a cause of neonatal diabetes mellitus in thiamine-responsive megaloblastic anaemia
SN  - 1399-5448
PY  - 2012///0927
KW  - Anemia, Megaloblastic
KW  - drug therapy
KW  - Consanguinity
KW  - Deafness
KW  - complications
KW  - Diabetes Mellitus
KW  - genetics
KW  - Genes, Recessive
KW  - Homozygote
KW  - Humans
KW  - Infant
KW  - Infant, Newborn
KW  - Infant, Newborn, Diseases
KW  - Membrane Transport Proteins
KW  - Syndrome
KW  - Thiamine
KW  - therapeutic use
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Review
UR  - https://doi.org/10.1111/j.1399-5448.2012.00855.x
ER  -