PuSH - Publication Server of Helmholtz Zentrum München

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1.
Reijnders, M.R.* et al.: PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature. J. Med. Genet. 55, 104-113 (2017)
2.
Banka, S.* et al.: Expanding the clinical and molecular spectrum of thiamine pyrophosphokinase deficiency: A treatable neurological disorder caused by TPK1 mutations. Mol. Genet. Metab. 113, 301-306 (2014)