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neuronal intranuclear inclusion disease
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MUDr. Martina Farolfi
Academic staff at First Faculty of Medicine
2 publications
Publications
publication
Impact of newborn screening and early dietary management on clinical outcome of patients with long chain 3-hydroxyacyl-coa dehydrogenase deficiency and medium chain acyl-coa dehydrogenase deficiency-a retrospective nationwide study
2021 |
First Faculty of Medicine, Faculty of Mathematics and Physics, Third Faculty of Medicine
publication
ALG3-CDG: a patient with novel variants and review of the genetic and ophthalmic findings
2021 |
First Faculty of Medicine
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