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Author/Creator Bleyer, Anthony J

1. Clinical manifestations and molecular aspects of phosphoribosylpyrophosphate synthetase superactivity in females. (21st March 2018)

Authors:
Zikánová, Marie; Wahezi, Dawn; Hay, Arielle; Stibůrková, Blanka; Pitts, Charles; Mušálková, Dita; Škopová, Václava; Barešová, Veronika; Součková, Olga; Hodaňová, Kateřina; Živná, Martina; Stránecký, Viktor; Hartmannová, Hana; Hnízda, Ales; Bleyer, Anthony J; Kmoch, Stanislav
Journal:
Rheumatology
Issue:
Volume 57:Number 7(2018)
Page Start:
1180
Record Type:
Journal Article
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2. FO067ADTKD-MUC1 IN THE CYPRIOT POPULATION: GENOTYPING, DEEP-PHENOTYPING, BIOMARKER DISCOVERY AND THE SEARCH FOR A ROBUST TREATMENT. (13th June 2019)

Authors:
Papagregoriou, Gregory; Stavrou, Christoforos; Christofides, Andrea; Koutsofti, Constantina; Zivna, Martina; Kuhn, Eric; Roignot, Julie; Kmoch, Stanislav; Bleyer, Anthony J; Greka, Anna; Deltas, Constantinos
Journal:
Nephrology dialysis transplantation
Issue:
Volume 34(2019)Supplement 1
Page Start:
Record Type:
Journal Article
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3. PAICS deficiency, a new defect of de novo purine synthesis resulting in multiple congenital anomalies and fatal outcome. (10th October 2019)

Authors:
Pelet, Anna; Skopova, Vaclava; Steuerwald, Ulrike; Baresova, Veronika; Zarhrate, Mohammed; Plaza, Jean-Marc; Hnizda, Ales; Krijt, Matyas; Souckova, Olga; Wibrand, Flemming; Andorsdóttir, Guðrið; Joensen, Fróði; Sedlak, David; Bleyer, Anthony J; Kmoch, Stanislav; Lyonnet, Stanislas; Zikanova, Marie
Journal:
Human molecular genetics
Issue:
Volume 28:Number 22(2019)
Page Start:
3805
Record Type:
Journal Article
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4. PATENCY-2 trial of vonapanitase to promote radiocephalic fistula use for hemodialysis and secondary patency. Issue 2 (March 2022)

Authors:
Peden, Eric K; Lucas, John F; Browne, Barry J; Settle, Stephen M; Scavo, Vincent A; Bleyer, Anthony J; Ozaki, Charles Keith; Teruya, Theodore H; Wilson, Samuel E; Mishler, Rick E; Ferris, Brian L; Hendon, Kendra S; Moist, Louise; Dixon, Bradley S; Wong, Marco D; Magill, Missy; Lindow, Francesca; ...
Journal:
Journal of vascular access
Issue:
Volume 23:Issue 2(2022)
Page Start:
265
Record Type:
Journal Article
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6. SP025Aberrant biogenesis and trafficking of secretory proteins is a common pathogenetic mechanism of autosomal dominant tubulointerstitial kidney disease (ADTKD). (13th June 2019)

Authors:
Zivna, Martina; Vyleťal, Petr; Barešová, Veronika; Hodaňová, Katerina; Stránecký, Viktor; Hartmannová, Hana; Hůlková, Helena; Jedlickova, Ivana; Sovova, Jana; Kidd, Kendrah; Bleyer, Anthony J; Kmoch, Stanislav
Journal:
Nephrology dialysis transplantation
Issue:
Volume 34(2019)Supplement 1
Page Start:
Record Type:
Journal Article
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