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Skopova, Vaclava
31  results:
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1

Pathway-specific effects of ADSL deficiency on neurodevelop..:

Gerhards, Julian ; Dutto, Ilaria ; Herrera, Antonio...
eLife.  11 (2022)  - p. , 2022
Link: https://doi.org/10.7554/..
 
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2

Metabolites of De Novo Purine Synthesis: Metabolic Regulato..:

Souckova, Olga ; Skopova, Vaclava ; Baresova, Veronika...
Metabolites.  12 (2022)  12 - p. 1210 , 2022
Link: https://doi.org/10.3390/..
 
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3

PAICS deficiency, a new defect of de novo purine synthesis ..:

Pelet, Anna ; Skopova, Vaclava ; Steuerwald, Ulrike...
Human Molecular Genetics.  28 (2019)  22 - p. 3805-3814 , 2019
Link: https://doi.org/10.1093/..
 
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4

Mass spectrometric analysis of purine de novo biosynthesis ..:

Mádrová, Lucie ; Krijt, Matyáš ; Barešová, Veronika...
PLOS ONE.  13 (2018)  12 - p. e0208947 , 2018
Link: https://doi.org/10.1371/..
 
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5

Clinical manifestations and molecular aspects of phosphorib..:

Zikánová, Marie ; Wahezi, Dawn ; Hay, Arielle...
Rheumatology.  57 (2018)  7 - p. 1180-1185 , 2018
Link: https://doi.org/10.1093/..
 
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6

Modified HeLa Cells and C.elegans Multicellular Model as Un..:

Skopova, Vaclava ; Baresova, Veronika ; Souckova, Olga..
The FASEB Journal.  32 (2018)  S1 - p. , 2018
Link: https://doi.org/10.1096/..
 
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7

Study of purinosome assembly in cell-based model systems wi..:

Baresova, Veronika ; Skopova, Vaclava ; Souckova, Olga...
PLOS ONE.  13 (2018)  7 - p. e0201432 , 2018
Link: https://doi.org/10.1371/..
 
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8

CRISPR-Cas9 induced mutations along de novo purine synthesi..:

Baresova, Veronika ; Krijt, Matyas ; Skopova, Vaclava...
Molecular Genetics and Metabolism.  119 (2016)  3 - p. 270-277 , 2016
Link: https://doi.org/10.1016/..
 
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9

A study of putative genetically determined defects of de no..:

Skopova, Vaclava ; Baresova, Veronika ; Souckova, Olga...
The FASEB Journal.  30 (2016)  S1 - p. , 2016
Link: https://doi.org/10.1096/..
 
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10

Screening for adenylosuccinate lyase deficiency using tande..:

Zikanova, Marie ; Krijt, Jakub ; Skopova, Vaclava...
Clinical Biochemistry.  48 (2015)  1-2 - p. 2-7 , 2015
Link: https://doi.org/10.1016/..
 
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11

The need for vigilance: False-negative screening for adenyl..:

Krijt, Jakub ; Skopova, Vaclava ; Adamkova, Vaclava...
Clinical Biochemistry.  46 (2013)  18 - p. 1899-1901 , 2013
Link: https://doi.org/10.1016/..
 
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12

Genetic and metabolomic analysis of AdeD and AdeI mutants o..:

Duval, Nathan ; Luhrs, Kyleen ; Wilkinson II, Terry G....
Molecular Genetics and Metabolism.  108 (2013)  3 - p. 178-189 , 2013
Link: https://doi.org/10.1016/..
 
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13

Molecular characterization of the AdeI mutant of Chinese ha..:

Vliet, Lydia K. ; Wilkinson II, Terry G. ; Duval, Nathan...
Molecular Genetics and Metabolism.  102 (2011)  1 - p. 61-68 , 2011
Link: https://doi.org/10.1016/..
 
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14

Biochemical and structural analysis of 14 mutant adsl enzym..:

Zikanova, Marie ; Skopova, Vaclava ; Hnizda, Ales..
Human Mutation.  31 (2010)  4 - p. 445-455 , 2010
Link: https://doi.org/10.1002/..
 
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15

Biochemical‐structural‐phenotypic correlation of adenylosuc..:

Zikanova, Marie ; Skopova, Vaclava ; Hnizda, Ales..
The FASEB Journal.  24 (2010)  S1 - p. , 2010
Link: https://doi.org/10.1096/..
 
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