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Thiamine phosphokinase deficiency and mutation in TPK1 presenting as biotin responsive basal ganglia disease

William L Nyhan1, Karen McGowan1, Bruce A Barshop1

  • 1Department of Pediatrics, University of California San Diego and Rady Children's Hospital, San Diego, CA, USA.

Clinica Chimica Acta; International Journal of Clinical Chemistry
|August 13, 2019
PubMed

Keywords:
Basal GangliaTPK1Thiamine phosphokinase

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