Expanding the clinical and molecular spectrum of thiamine pyrophosphokinase deficiency: A treatable neurological disorder caused by TPK1 mutations
Author:
Funder
Manchester Biomedical Research Centre
European Union
E-Rare
Publisher
Elsevier BV
Subject
Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism
Reference14 articles.
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2. Defects of thiamine transport and metabolism;Brown;J. Inherit. Metab. Dis.,2014
3. Thiamine pyrophosphokinase deficiency in encephalopathic children with defects in the pyruvate oxidation pathway;Mayr;Am. J. Hum. Genet.,2011
4. Steady-state kinetics and mutational studies of recombinant human thiamin pyrophosphokinase;Onozuka;J. Nutr. Sci. Vitaminol.,2003
5. Outcome of pyruvate dehydrogenase deficiency treated with ketogenic diets. Studies in patients with identical mutations;Wexler;Neurology,1997
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