Expanding the clinical and molecular spectrum of thiamine pyrophosphokinase deficiency: A treatable neurological disorder caused by TPK1 mutations

标题
Expanding the clinical and molecular spectrum of thiamine pyrophosphokinase deficiency: A treatable neurological disorder caused by TPK1 mutations
作者
关键词
-
出版物
MOLECULAR GENETICS AND METABOLISM
Volume 113, Issue 4, Pages 301-306
出版商
Elsevier BV
发表日期
2014-10-06
DOI
10.1016/j.ymgme.2014.09.010

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