Fol. Biol. 2019, 65, 134-141
https://doi.org/10.14712/fb2019065030134
Review of SRD5A3 Disease-Causing Sequence Variants and Ocular Findings in Steroid 5α-Reductase Type 3 Congenital Disorder of Glycosylation, and a Detailed New Case
Individual author index pages
- B. Kousal
- T. Honzík
- H. Hansíková
- N. Ondrušková
- A. Čechová
- M. Tesařová
- V. Stránecký
- M. Meliška
- M. Michaelides
- Petra Lišková
Other articles of these authors
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Phenotype Variability in Czech Patients Carrying PAX6 Disease-Causing Variants
J. Moravikova, Z. Kozmik, L. Hlavata, M. Putzova, P. Skalicka, M. Michaelides, F. Malinka, Lubica Dudakova, P. Liskova
2020, Vol. 66, Issue 4, pp. 123-132 -
Molecular Diagnostics of Copper-Transporting Protein Mutations Allows Early Onset Individual Therapy of Menkes Disease
L. Králík, E. Flachsová, H. Hansíková, V. Saudek, J. Zeman, Pavel Martásek
2017, Vol. 63, Issue 5-6, pp. 165-173 -
Non-Invasive Screening of Cytochrome c Oxidase Deficiency in Children Using a Dipstick Immunocapture Assay
M. Rodinová, E. Trefilová, T. Honzík, M. Tesařová, J. Zeman, Hana Hansíková
2014, Vol. 60, Issue 6, pp. 268-274 -
Lipoprotein Lipase Deficiency: Clinical, Biochemical and Molecular Characteristics in Three Patients with Novel Mutations in the LPL Gene
H. Kolářová, M. Tesařová, Š. Švecová, V. Stránecký, A. Přistoupilová, T. Zima, J. Uhrová, S. Y. Volgina, J. Zeman, Tomáš Honzík
2014, Vol. 60, Issue 5, pp. 235-243
