Mikstiene, Violeta <br/><br/>
Thiamine responsive megaloblastic anemia syndrome: a novel homozygous SLC19A2 gene mutation identified.  [electronic resource] 

 -  American journal of medical genetics. Part A  Jul 2015 
 - 1605-9 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article 
<br/><br/><label>ISSN: </label>1552-4833 
<br/><br/><label>Standard No.: </label>10.1002/ajmg.a.37015  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Anemia, Megaloblastic--drug therapy<br/>Base Sequence<br/>Child, Preschool<br/>Diabetes Mellitus--drug therapy<br/>Hearing Loss, Sensorineural--drug therapy<br/>Homozygote<br/>Humans<br/>Lithuania<br/>Male<br/>Membrane Transport Proteins--genetics<br/>Molecular Sequence Data<br/>Mutation, Missense--genetics<br/>Sequence Analysis, DNA<br/>Thiamine--therapeutic use<br/>Thiamine Deficiency--congenital<br/>Treatment Outcome