Thiamine-responsive megaloblastic anemia syndrome with Ebstein anomaly: a case report.
about
A novel homozygous SLC19A2 mutation in a Portuguese patient with diabetes mellitus and thiamine-responsive megaloblastic anaemia.Treatment of genetic defects of thiamine transport and metabolism.Recovered insulin production after thiamine administration in permanent neonatal diabetes mellitus with a novel solute carrier family 19 member 2 (SLC19A2) mutation.
P2860
Thiamine-responsive megaloblastic anemia syndrome with Ebstein anomaly: a case report.
description
2013 nî lūn-bûn
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name
Thiamine-responsive megaloblastic anemia syndrome with Ebstein anomaly: a case report.
@en
Thiamine-responsive megaloblastic anemia syndrome with Ebstein anomaly: a case report.
@nl
type
label
Thiamine-responsive megaloblastic anemia syndrome with Ebstein anomaly: a case report.
@en
Thiamine-responsive megaloblastic anemia syndrome with Ebstein anomaly: a case report.
@nl
prefLabel
Thiamine-responsive megaloblastic anemia syndrome with Ebstein anomaly: a case report.
@en
Thiamine-responsive megaloblastic anemia syndrome with Ebstein anomaly: a case report.
@nl
P2860
P1476
Thiamine-responsive megaloblastic anemia syndrome with Ebstein anomaly: a case report
@en
P2093
Mohammad Taghi Akbari
Shohreh Zare Karizi
P2860
P2888
P304
P356
10.1007/S00431-013-2237-7
P577
2013-12-20T00:00:00Z