Thiamine pyrophosphokinase deficiency causes a Leigh Disease like phenotype in a sibling pair: identification through whole exome sequencing and management strategies (Q37434098)
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scientific article published on 11 February 2014
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English | Thiamine pyrophosphokinase deficiency causes a Leigh Disease like phenotype in a sibling pair: identification through whole exome sequencing and management strategies |
scientific article published on 11 February 2014 |
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Thiamine pyrophosphokinase deficiency causes a Leigh Disease like phenotype in a sibling pair: identification through whole exome sequencing and management strategies (English)
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Gilbert Vezina
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Jamie L Fraser
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Sandra Yang
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Laura Cramp
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Uta Lichter-Konecki
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Kristina P Cusmano-Ozog
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Patroula Smpokou
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Kimberly A Chapman
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Dina J Zand
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11 February 2014
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66-70
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