Thiamine responsive megaloblastic anemia syndrome: a novel homozygous SLC19A2 gene mutation identified. [electronic resource]
Producer: 20160317Description: 1605-9 p. digitalISSN:- 1552-4833
- Anemia, Megaloblastic -- drug therapy
- Base Sequence
- Child, Preschool
- Diabetes Mellitus -- drug therapy
- Hearing Loss, Sensorineural -- drug therapy
- Homozygote
- Humans
- Lithuania
- Male
- Membrane Transport Proteins -- genetics
- Molecular Sequence Data
- Mutation, Missense -- genetics
- Sequence Analysis, DNA
- Thiamine -- therapeutic use
- Thiamine Deficiency -- congenital
- Treatment Outcome
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Publication Type: Case Reports; Journal Article
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