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P. Chrastina

Charles University in Prague

4

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55

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[Clinical, biochemical and molecular characteristics in 11 Czech children with tyrosinemia type I].

2010 Casopís lékar̆ů c̆eských
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Two novel mutations in mitochondrial acetoacetyl-CoA thiolase deficiency.

2005 Journal of Inherited Metabolic Disease
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Novel mutations in a boy with dihydrolipoamide dehydrogenase deficiency.

2001 Medical Science Monitor
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Abnormalities in succinylpurines in fumarase deficiency: Possible role in pathogenesis of CNS impairment

2000 Journal of Inherited Metabolic Disease
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