title: Thiamine responsive megaloblastic anemia with a novel SLC19A2 mutation presenting with myeloid maturational arrest.
authors.forename: Vikas
authors.initials: V
authors.lastname: Dua
authors.forename: Satya P
authors.initials: SP
authors.lastname: Yadav
authors.forename: Vijay
authors.initials: V
authors.lastname: Kumar
authors.forename: Afaq Ahmed
authors.initials: AA
authors.lastname: Khan
authors.forename: Ratna
authors.initials: R
authors.lastname: Puri
authors.forename: Ishwar
authors.initials: I
authors.lastname: Verma
authors.forename: Sarah E
authors.initials: SE
authors.lastname: Flanagan
authors.forename: Sian
authors.initials: S
authors.lastname: Ellard
authors.forename: Anupam
authors.initials: A
authors.lastname: Sachdeva
mesh_terms: D000749:Anemia, Megaloblastic / Q000235:genetics*; D001483:Base Sequence; D002675:Child, Preschool; D003920:Diabetes Mellitus / Q000235:genetics*; D005260:Female; D006319:Hearing Loss, Sensorineural / Q000235:genetics*; D006801:Humans; D007655:Ketoglutarate Dehydrogenase Complex / Q000172:deficiency / Q000235:genetics; D026901:Membrane Transport Proteins / Q000235:genetics*; D008969:Molecular Sequence Data; D009154:Mutation; D016133:Polymerase Chain Reaction; D013832:Thiamine Deficiency / Q000151:congenital
chemical_list: D026901:Membrane Transport Proteins; C120043:SLC19A2 protein, human; D007655:Ketoglutarate Dehydrogenase Complex