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Veedamali S Subramanian Selected Research

Megaloblastic Anemia

1/2016Novel nonsense mutation (p.Ile411Metfs*12) in the SLC19A2 gene causing Thiamine Responsive Megaloblastic Anemia in an Indian patient.
11/2006Biotin-responsive basal ganglia disease-linked mutations inhibit thiamine transport via hTHTR2: biotin is not a substrate for hTHTR2.
2/2003Cell biology of the human thiamine transporter-1 (hTHTR1). Intracellular trafficking and membrane targeting mechanisms.

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Veedamali S Subramanian Research Topics

Disease

3Megaloblastic Anemia
01/2016 - 02/2003
2Deafness (Deaf Mutism)
04/2012 - 07/2007
1Neurodegenerative Diseases (Neurodegenerative Disease)
01/2015
1Pancreatic Diseases (Pancreatic Disease)
01/2015
1Body Weight (Weight, Body)
01/2013
1Necrosis
01/2013
1Progressive Bulbar Palsy (Fazio Londe Syndrome)
04/2012
1Respiratory Insufficiency (Respiratory Failure)
04/2012
1Diabetes Mellitus
07/2007
1Thiamine Deficiency
02/2003

Drug/Important Bio-Agent (IBA)

4Thiamine (Aneurin)FDA Link
01/2016 - 02/2003
2Brown-Vialetto-Van Laere syndromeIBA
01/2015 - 04/2012
1Nonsense Codon (Nonsense Mutation)IBA
01/2016
1SmokeIBA
01/2015
1NicotineFDA Link
01/2015
1Messenger RNA (mRNA)IBA
01/2013
1Amish lethal microcephalyIBA
01/2013
1Retinaldehyde (Retinal)IBA
07/2007