Thiamine responsive megaloblastic anemia: the puzzling phenotype.
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: the puzzling phenotype.
description
2013 nî lūn-bûn
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2013年の論文
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name
Thiamine responsive megaloblastic anemia: the puzzling phenotype.
@en
Thiamine responsive megaloblastic anemia: the puzzling phenotype.
@nl
type
label
Thiamine responsive megaloblastic anemia: the puzzling phenotype.
@en
Thiamine responsive megaloblastic anemia: the puzzling phenotype.
@nl
prefLabel
Thiamine responsive megaloblastic anemia: the puzzling phenotype.
@en
Thiamine responsive megaloblastic anemia: the puzzling phenotype.
@nl
P2093
P2860
P356
P1476
Thiamine responsive megaloblastic anemia: the puzzling phenotype.
@en
P2093
Abdulhakim Alrawas
Ismail Beshlawi
Mohamed Elshinawy
Shoaib Al Zadjali
Wafa Bashir
Yasser Wali
P2860
P304
P356
10.1002/PBC.24849
P577
2013-11-19T00:00:00Z