Thiamine pyrophosphokinase deficiency causes a Leigh Disease like phenotype in a sibling pair: identification through whole exome sequencing and management strategies-Reference-Cited by-同舟云学术

Thiamine pyrophosphokinase deficiency causes a Leigh Disease like phenotype in a sibling pair: identification through whole exome sequencing and management strategies

Published:2014 Issue: Volume:1 Page:66-70
ISSN:2214-4269
Container-title:Molecular Genetics and Metabolism Reports
language:en
Short-container-title:Molecular Genetics and Metabolism Reports

Author:

Fraser Jamie L.,Vanderver Adeline,Yang Sandra,Chang Taeun,Cramp Laura,Vezina Gilbert,Lichter-Konecki Uta,Cusmano-Ozog Kristina P.,Smpokou Patroula,Chapman Kimberly A.,Zand Dina J.

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology

Reference18 articles.

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2. Thiamine diphosphate in growing tissues. I. Thiamine diphosphate in normal and malignant tissues;Kiessling;Exp. Cell Res.,1961

3. Thiamine diphosphate in growing tissues. III. Pyruvate oxidation in liver mitochondria from young and from thiamine diphosphate deficient adult rats;Kiessling;Exp. Cell Res.,1962

4. Thiamine diphosphate in growing tissues. IV. Pyruvate oxidation in muscle mitochondria from young rats and in mitochondria from malignant tissues;Kiessling;Exp. Cell Res.,1962

5. Effects of thiamine deficiency on brain metabolism: implications for the pathogenesis of the Wernicke–Korsakoff syndrome;Butterworth;Alcohol Alcohol.,1989

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