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publication
Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency
2017 |
1. lékařská fakulta
publication
Absence of MMACHC in peripheral retinal cells does not lead to an ocular phenotype in mice
2021 |
1. lékařská fakulta
publication
Newborn screening for homocystinurias: Recent recommendations versus current practice
2019 |
1. lékařská fakulta, Matematicko-fyzikální fakulta
publication
Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: Data from the E-HOD registry
2019 |
1. lékařská fakulta
publication
Newborn screening for homocystinurias and methylation disorders: systematic review and proposed guidelines
2015 |
1. lékařská fakulta