Infantile-onset thiamine responsive megaloblastic anemia syndrome with SLC19A2 mutation: a case report.
Katipoğlu, Nagehan
Infantile-onset thiamine responsive megaloblastic anemia syndrome with SLC19A2 mutation: a case report. [electronic resource] - Archivos argentinos de pediatria 06 2017 - e153-e156 p. digital
Publication Type: Case Reports; Journal Article
1668-3501
10.5546/aap.2017.eng.e153 doi
Anemia, Megaloblastic--genetics
Diabetes Mellitus--genetics
Female
Hearing Loss, Sensorineural--genetics
Humans
Infant
Membrane Transport Proteins--genetics
Mutation
Thiamine Deficiency--congenital
Infantile-onset thiamine responsive megaloblastic anemia syndrome with SLC19A2 mutation: a case report. [electronic resource] - Archivos argentinos de pediatria 06 2017 - e153-e156 p. digital
Publication Type: Case Reports; Journal Article
1668-3501
10.5546/aap.2017.eng.e153 doi
Anemia, Megaloblastic--genetics
Diabetes Mellitus--genetics
Female
Hearing Loss, Sensorineural--genetics
Humans
Infant
Membrane Transport Proteins--genetics
Mutation
Thiamine Deficiency--congenital