Thiamine phosphokinase deficiency and mutation in TPK1 presenting as biotin responsive basal ganglia disease
Author:
Publisher
Elsevier BV
Subject
Biochemistry, medical,Clinical Biochemistry,Biochemistry,General Medicine
Reference11 articles.
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2. Expanding the clinical and molecular spectrum of thiamine pyrophosphokinase deficiency: a treatable neurological disorder caused by TPK1 mutations;Banka;Mol. Genet. Metab.,2014
3. Defects of thiamine transport and metabolism;Brown;J. Inherit. Metab. Dis.,2014
4. Defective renal transport of biotin in a girl with Leigh syndrome;McGowan;J. Investig. Med.,1998
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