Banka, Siddharth <br/><br/>
Expanding the clinical and molecular spectrum of thiamine pyrophosphokinase deficiency: a treatable neurological disorder caused by TPK1 mutations.  [electronic resource] 

 -  Molecular genetics and metabolism  Dec 2014 
 - 301-6 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1096-7206 
<br/><br/><label>Standard No.: </label>10.1016/j.ymgme.2014.09.010  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Acidosis, Lactic<br/>Amino Acid Sequence<br/>Child<br/>Child, Preschool<br/>Female<br/>Humans<br/>Magnetic Resonance Imaging<br/>Male<br/>Models, Molecular<br/>Mutation<br/>Nervous System Diseases--drug therapy<br/>Phenotype<br/>Protein Conformation<br/>Protein Multimerization<br/>Thiamin Pyrophosphokinase--chemistry<br/>Thiamine--administration & dosage<br/>Thiamine Pyrophosphate--metabolism