Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Filters

Marie Zikanova

Showing results (11-20 of 16) with videos related to

Pageof 2
Sort By:
You have reached the last page of results.This site can display upto 16 results.
Molecular Genetics and Metabolism|July 9, 2026
Severe adenylosuccinate lyase deficiency with early autonomic dysfunction: functional characterization of a novel ADSL variant and exploratory treatment with disulfiramRužica Kravljanac, Marie Zikanova, Iva Milačić, et al.
Molecular Genetics and Metabolism|February 12, 2013
Genetic and metabolomic analysis of AdeD and AdeI mutants of de novo purine biosynthesis: cellular models of de novo purine biosynthesis deficiency disordersNathan Duval, Kyleen Luhrs, Terry G Wilkinson, et al.
Journal of Inherited Metabolic Disease|May 27, 2025
Phosphoribosylformylglycinamidine Synthase (PFAS) Deficiency: Clinical, Genetic and Metabolic Characterisation of a Novel Defect in Purine de Novo SynthesisMarie Zikanova, Vaclava Skopova, Kyra E Stuurman, et al.
Molecular Genetics and Metabolism|June 6, 2008
Clinical, biochemical and molecular findings in seven Polish patients with adenylosuccinate lyase deficiencyAgnieszka Jurecka, Marie Zikanova, Anna Tylki-Szymanska, et al.
European Journal of Human Genetics : EJHG|November 28, 2024
Expanding clinical spectrum of PAICS deficiency: Comprehensive analysis of two sibling casesWen-Chin Weng, Vaclava Skopova, Veronika Baresova, et al.
Human Molecular Genetics|October 11, 2019
PAICS deficiency, a new defect of de novo purine synthesis resulting in multiple congenital anomalies and fatal outcomeAnna Pelet, Vaclava Skopova, Ulrike Steuerwald, et al.
Pageof 2

Showing results (11-20 of 16) with videos related to

Sort By:
Pageof 2
You have reached the last page of results.This site can display upto 16 results.
Molecular Genetics and Metabolism|July 9, 2026
Severe adenylosuccinate lyase deficiency with early autonomic dysfunction: functional characterization of a novel ADSL variant and exploratory treatment with disulfiramRužica Kravljanac, Marie Zikanova, Iva Milačić, et al.
Molecular Genetics and Metabolism|February 12, 2013
Genetic and metabolomic analysis of AdeD and AdeI mutants of de novo purine biosynthesis: cellular models of de novo purine biosynthesis deficiency disordersNathan Duval, Kyleen Luhrs, Terry G Wilkinson, et al.
Journal of Inherited Metabolic Disease|May 27, 2025
Phosphoribosylformylglycinamidine Synthase (PFAS) Deficiency: Clinical, Genetic and Metabolic Characterisation of a Novel Defect in Purine de Novo SynthesisMarie Zikanova, Vaclava Skopova, Kyra E Stuurman, et al.
Molecular Genetics and Metabolism|June 6, 2008
Clinical, biochemical and molecular findings in seven Polish patients with adenylosuccinate lyase deficiencyAgnieszka Jurecka, Marie Zikanova, Anna Tylki-Szymanska, et al.
European Journal of Human Genetics : EJHG|November 28, 2024
Expanding clinical spectrum of PAICS deficiency: Comprehensive analysis of two sibling casesWen-Chin Weng, Vaclava Skopova, Veronika Baresova, et al.
Human Molecular Genetics|October 11, 2019
PAICS deficiency, a new defect of de novo purine synthesis resulting in multiple congenital anomalies and fatal outcomeAnna Pelet, Vaclava Skopova, Ulrike Steuerwald, et al.
Pageof 2