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Document type:
journal article 
Author(s):
Mayr, JA; Freisinger, P; Schlachter, K; Rolinski, B; Zimmermann, FA; Scheffner, T; Haack, TB; Koch, J; Ahting, U; Prokisch, H; Sperl, W 
Title:
Thiamine pyrophosphokinase deficiency in encephalopathic children with defects in the pyruvate oxidation pathway. 
Abstract:
Thiamine pyrophosphate (TPP) is an essential cofactor of the cytosolic transketolase and of three mitochondrial enzymes involved in the oxidative decarboxylation of either pyruvate, ?-ketoglutarate or branched chain amino acids. Thiamine is taken up by specific transporters into the cell and converted to the active TPP by thiamine pyrophosphokinase (TPK) in the cytosol from where it can be transported into mitochondria. Here, we report five individuals from three families presenting with variabl...    »
 
Journal title abbreviation:
Am J Hum Genet 
Year:
2011 
Journal volume:
89 
Journal issue:
Pages contribution:
806-12 
Language:
eng 
Print-ISSN:
0002-9297 
TUM Institution:
Institut für Humangenetik