Stanislav Kmoch

发表

Abnormalities in succinylpurines in fumarase deficiency: Possible role in pathogenesis of CNS impairment

J. Zeman, S. Kmoch, J. Houštěk, 2000, Journal of Inherited Metabolic Disease.

The molecular basis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in compound heterozygous patients: is there correlation between genotype and phenotype?

S. Packman, L. Bolund, P. Bross, 1997, Human molecular genetics.

d-Ribose therapy in four Polish patients with adenylosuccinate lyase deficiency: Absence of positive effect

S. Kmoch, A. Tylki-Szymańska, A. Jurecka, 2008, Journal of Inherited Metabolic Disease.