Eight-fold increased COVID-19 mortality in autosomal dominant tubulointerstitial kidney disease due to MUC1 mutations: an observational study.

Autor: Kidd KO; Wake Forest School of Medicine, Section on Nephrology, Winston-Salem, NC, 27157, USA.; Department of Paediatrics and Inherited Metabolic Disorders, Research Unit of Rare Diseases, First Faculty of Medicine, Charles University, Prague, Czech Republic., Williams AH; DNA Data Solutions, LLC, St. Petersburg, FL, USA., Taylor A; Wake Forest School of Medicine, Section on Nephrology, Winston-Salem, NC, 27157, USA., Martin L; Wake Forest School of Medicine, Section on Nephrology, Winston-Salem, NC, 27157, USA., Robins V; Wake Forest School of Medicine, Section on Nephrology, Winston-Salem, NC, 27157, USA., Sayer JA; Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.; Renal Services, The Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.; Newcastle Biomedical Research Centre, NIHR, Newcastle upon Tyne, UK., Olinger E; Center for Human Genetics, Cliniques universitaires Saint-Luc, Brussels, Belgium., Mabillard HR; Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK., Papagregoriou G; Department of Biological Sciences, Molecular Medicine Research Center, University of Cyprus, Nicosia, Cyprus., Deltas C; Department of Biological Sciences, Molecular Medicine Research Center, University of Cyprus, Nicosia, Cyprus., Stavrou C; Department of Nephrology, Evangelismos Hospital, Paphos, Cyprus., Conlon PJ; Department of Nephrology and Transplantation Beaumont Hospital, Dublin, Ireland.; Royal College of Surgeons in Ireland, Dublin, Ireland., Hogan RE; Department of Nephrology and Transplantation Beaumont Hospital, Dublin, Ireland.; Royal College of Surgeons in Ireland, Dublin, Ireland., Elhassan EAE; Department of Nephrology and Transplantation Beaumont Hospital, Dublin, Ireland.; Royal College of Surgeons in Ireland, Dublin, Ireland., Springer D; Institute of Medical Biochemistry and Laboratory Diagnostics, General University Hospital and the First Faculty of Medicine of Charles University, Prague, Czech Republic., Zima T; Institute of Medical Biochemistry and Laboratory Diagnostics, General University Hospital and the First Faculty of Medicine of Charles University, Prague, Czech Republic., Izzi C; Clinical Genetics Unit, University of Brescia and Spedali Civili, Brescia, Italy., Vrbacká A; Department of Paediatrics and Inherited Metabolic Disorders, Research Unit of Rare Diseases, First Faculty of Medicine, Charles University, Prague, Czech Republic., Piherová L; Department of Paediatrics and Inherited Metabolic Disorders, Research Unit of Rare Diseases, First Faculty of Medicine, Charles University, Prague, Czech Republic., Pohludka M; Genespector, Prague, Czech Republic., Radina M; Department of Paediatrics and Inherited Metabolic Disorders, Research Unit of Rare Diseases, First Faculty of Medicine, Charles University, Prague, Czech Republic., Vylet'al P; Department of Paediatrics and Inherited Metabolic Disorders, Research Unit of Rare Diseases, First Faculty of Medicine, Charles University, Prague, Czech Republic., Hodanova K; Department of Paediatrics and Inherited Metabolic Disorders, Research Unit of Rare Diseases, First Faculty of Medicine, Charles University, Prague, Czech Republic., Zivna M; Wake Forest School of Medicine, Section on Nephrology, Winston-Salem, NC, 27157, USA.; Department of Paediatrics and Inherited Metabolic Disorders, Research Unit of Rare Diseases, First Faculty of Medicine, Charles University, Prague, Czech Republic., Kmoch S; Wake Forest School of Medicine, Section on Nephrology, Winston-Salem, NC, 27157, USA.; Department of Paediatrics and Inherited Metabolic Disorders, Research Unit of Rare Diseases, First Faculty of Medicine, Charles University, Prague, Czech Republic.; Medirex Group Academy, Trnava, Slovakia., Bleyer AJ Sr; Wake Forest School of Medicine, Section on Nephrology, Winston-Salem, NC, 27157, USA. ableyer@wakehealth.edu.; Department of Paediatrics and Inherited Metabolic Disorders, Research Unit of Rare Diseases, First Faculty of Medicine, Charles University, Prague, Czech Republic. ableyer@wakehealth.edu.

Publikováno v: BMC nephrology [BMC Nephrol] 2024 Dec 18; Vol. 25 (1), pp. 449. Date of Electronic Publication: 2024 Dec 18.

Disrupted uromodulin trafficking is rescued by targeting TMED cargo receptors.

Autor: Bazua-Valenti S; The Broad Institute of Massachusetts Institute of Technology (MIT) and Harvard, Cambridge, Massachusetts, USA.; Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts, USA.; Departamento de Nefrología y Metabolismo Mineral, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Ciudad de México, México., Brown MR; The Broad Institute of Massachusetts Institute of Technology (MIT) and Harvard, Cambridge, Massachusetts, USA., Zavras J; The Broad Institute of Massachusetts Institute of Technology (MIT) and Harvard, Cambridge, Massachusetts, USA., Riedl Khursigara M; The Broad Institute of Massachusetts Institute of Technology (MIT) and Harvard, Cambridge, Massachusetts, USA., Grinkevich E; The Broad Institute of Massachusetts Institute of Technology (MIT) and Harvard, Cambridge, Massachusetts, USA., Sidhom EH; The Broad Institute of Massachusetts Institute of Technology (MIT) and Harvard, Cambridge, Massachusetts, USA.; Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts, USA., Keller KH; The Broad Institute of Massachusetts Institute of Technology (MIT) and Harvard, Cambridge, Massachusetts, USA.; Department of Pathology, Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts, USA., Racette M; The Broad Institute of Massachusetts Institute of Technology (MIT) and Harvard, Cambridge, Massachusetts, USA., Dvela-Levitt M; The Broad Institute of Massachusetts Institute of Technology (MIT) and Harvard, Cambridge, Massachusetts, USA.; The Mina and Everard Goodman Faculty of Life Sciences, Bar-Ilan University, Ramat-Gan, Israel., Quintanova C; Institute of Physiology, Christian - Albrechts - Universität, Kiel, Germany., Demirci H; Institute of Translational Physiology and.; Department of Anatomy, Charité - Universitätsmedizin, Berlin, Germany., Sewerin S; The Broad Institute of Massachusetts Institute of Technology (MIT) and Harvard, Cambridge, Massachusetts, USA., Goss AC; The Broad Institute of Massachusetts Institute of Technology (MIT) and Harvard, Cambridge, Massachusetts, USA.; Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts, USA., Lin J; The Broad Institute of Massachusetts Institute of Technology (MIT) and Harvard, Cambridge, Massachusetts, USA., Yoo H; The Broad Institute of Massachusetts Institute of Technology (MIT) and Harvard, Cambridge, Massachusetts, USA., Vaca Jacome AS; Proteomics Platform, The Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA., Papanastasiou M; Proteomics Platform, The Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA., Udeshi N; Proteomics Platform, The Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA., Carr SA; Proteomics Platform, The Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA., Himmerkus N; Institute of Physiology, Christian - Albrechts - Universität, Kiel, Germany., Bleich M; Institute of Physiology, Christian - Albrechts - Universität, Kiel, Germany., Mutig K; Institute of Translational Physiology and.; Department of Anatomy, Charité - Universitätsmedizin, Berlin, Germany., Bachmann S; Institute of Translational Physiology and.; Department of Anatomy, Charité - Universitätsmedizin, Berlin, Germany., Halbritter J; Department of Nephrology and Medical Intensive Care, Charité - Universitätsmedizin, Berlin, Corporate Member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany., Kmoch S; Research Unit for Rare Diseases, Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University, Prague, Czech Republic., Živná M; Research Unit for Rare Diseases, Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University, Prague, Czech Republic., Kidd K; Section on Nephrology, Wake Forest School of Medicine, Medical Center Blvd., Winston-Salem, North Carolina, USA., Bleyer AJ; Section on Nephrology, Wake Forest School of Medicine, Medical Center Blvd., Winston-Salem, North Carolina, USA., Weins A; Department of Pathology, Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts, USA., Alper SL; The Broad Institute of Massachusetts Institute of Technology (MIT) and Harvard, Cambridge, Massachusetts, USA.; Division of Nephrology, Beth Israel Deaconess Medical Center and Department of Medicine, Harvard Medical School, Boston, Massachusetts, USA., Shaw JL; The Broad Institute of Massachusetts Institute of Technology (MIT) and Harvard, Cambridge, Massachusetts, USA., Kost-Alimova M; The Broad Institute of Massachusetts Institute of Technology (MIT) and Harvard, Cambridge, Massachusetts, USA., Pablo JLB; The Broad Institute of Massachusetts Institute of Technology (MIT) and Harvard, Cambridge, Massachusetts, USA., Greka A; The Broad Institute of Massachusetts Institute of Technology (MIT) and Harvard, Cambridge, Massachusetts, USA.; Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts, USA.

Publikováno v: The Journal of clinical investigation [J Clin Invest] 2024 Dec 16; Vol. 134 (24). Date of Electronic Publication: 2024 Dec 16.

Misprocessing of α -Galactosidase A, Endoplasmic Reticulum Stress, and the Unfolded Protein Response.

Autor: Živná M; Research Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague and General University Hospital, Prague, Czech Republic.; Section on Nephrology, Wake Forest School of Medicine, Winston-Salem, North Carolina., Dostálová G; Second Department of Internal Cardiovascular Medicine, First Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic., Barešová V; Research Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague and General University Hospital, Prague, Czech Republic., Mušálková D; Research Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague and General University Hospital, Prague, Czech Republic., Svojšová K; Research Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague and General University Hospital, Prague, Czech Republic., Meiseles D; The Mina and Everard Goodman Faculty of Life Sciences, Bar-Ilan University, Ramat-Gan, Israel., Kinstlinger S; The Mina and Everard Goodman Faculty of Life Sciences, Bar-Ilan University, Ramat-Gan, Israel., Kuchař L; Research Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague and General University Hospital, Prague, Czech Republic., Asfaw B; Research Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague and General University Hospital, Prague, Czech Republic., Poupětová H; Department of Neurology and Centre of Clinical Neuroscience, First Faculty of Medicine, Charles University and General University Hospital in Prague, Czech Republic., Vlášková H; Diagnostic Laboratory, Department of Pediatrics and Inherited Metabolic Disorders, General University Hospital, Prague, Czech Republic., Kmochová T; Research Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague and General University Hospital, Prague, Czech Republic., Vyleťal P; Research Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague and General University Hospital, Prague, Czech Republic., Hartmannová H; Research Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague and General University Hospital, Prague, Czech Republic., Hodaňová K; Research Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague and General University Hospital, Prague, Czech Republic., Stránecký V; Research Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague and General University Hospital, Prague, Czech Republic., Steiner-Mrázová L; Research Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague and General University Hospital, Prague, Czech Republic., Hnízda A; Research Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague and General University Hospital, Prague, Czech Republic., Živný J; Research Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague and General University Hospital, Prague, Czech Republic., Radina M; Research Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague and General University Hospital, Prague, Czech Republic., Votruba M; Research Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague and General University Hospital, Prague, Czech Republic., Sovová J; Research Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague and General University Hospital, Prague, Czech Republic., Trešlová H; Research Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague and General University Hospital, Prague, Czech Republic., Stolnaja L; Diagnostic Laboratory, Department of Pediatrics and Inherited Metabolic Disorders, General University Hospital, Prague, Czech Republic., Reková P; Department of Neurology and Centre of Clinical Neuroscience, First Faculty of Medicine, Charles University and General University Hospital in Prague, Czech Republic., Roblová L; Second Department of Internal Cardiovascular Medicine, First Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic., Honsová E; AeskuLab Pathology, Prague, Czech Republic.; Institute of Pathology, First Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic., Rychlík I; Department of Medicine, Third Faculty of Medicine, Charles University in Prague and Faculty Hospital Kralovske Vinohrady, Prague, Czech Republic., Dvela-Levitt M; The Mina and Everard Goodman Faculty of Life Sciences, Bar-Ilan University, Ramat-Gan, Israel., Bleyer AJ; Research Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague and General University Hospital, Prague, Czech Republic.; Section on Nephrology, Wake Forest School of Medicine, Winston-Salem, North Carolina., Linhart A; Second Department of Internal Cardiovascular Medicine, First Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic., Sikora J; Research Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague and General University Hospital, Prague, Czech Republic.; Institute of Pathology, First Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic., Kmoch S; Research Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague and General University Hospital, Prague, Czech Republic.; Section on Nephrology, Wake Forest School of Medicine, Winston-Salem, North Carolina.

Publikováno v: Journal of the American Society of Nephrology : JASN [J Am Soc Nephrol] 2024 Nov 12. Date of Electronic Publication: 2024 Nov 12.

ANTXR1 deficiency promotes fibroblast senescence: implications for GAPO syndrome as a progeroid disorder.

Autor: Przyklenk M; Center for Biochemistry, Medical Faculty, University of Cologne, Joseph-Stelzmann-Str. 52, 50931, Cologne, Germany., Karmacharya S; Center for Biochemistry, Medical Faculty, University of Cologne, Joseph-Stelzmann-Str. 52, 50931, Cologne, Germany., Bonasera D; Genetic Instability, Cell Death and Inflammation Laboratory, Center for Biochemistry, Medical Faculty, University of Cologne, Joseph-Stelzmann-Str. 52, 50931, Cologne, Germany., Pasanen-Zentz AL; Center for Biochemistry, Medical Faculty, University of Cologne, Joseph-Stelzmann-Str. 52, 50931, Cologne, Germany., Kmoch S; Research Unit of Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University, Prague, Czech Republic., Paulsson M; Center for Biochemistry, Medical Faculty, University of Cologne, Joseph-Stelzmann-Str. 52, 50931, Cologne, Germany.; Center for Molecular Medicine Cologne (CMMC), University of Cologne, Cologne, Germany., Wagener R; Center for Biochemistry, Medical Faculty, University of Cologne, Joseph-Stelzmann-Str. 52, 50931, Cologne, Germany., Liccardi G; Genetic Instability, Cell Death and Inflammation Laboratory, Center for Biochemistry, Medical Faculty, University of Cologne, Joseph-Stelzmann-Str. 52, 50931, Cologne, Germany., Schiavinato A; Center for Biochemistry, Medical Faculty, University of Cologne, Joseph-Stelzmann-Str. 52, 50931, Cologne, Germany. aschiav1@uni-koeln.de.; Center for Molecular Medicine Cologne (CMMC), University of Cologne, Cologne, Germany. aschiav1@uni-koeln.de.; Department of Pediatrics and Adolescent Medicine, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany. aschiav1@uni-koeln.de.

Publikováno v: Scientific reports [Sci Rep] 2024 Apr 23; Vol. 14 (1), pp. 9321. Date of Electronic Publication: 2024 Apr 23.

Autosomal dominant ApoA4 mutations present as tubulointerstitial kidney disease with medullary amyloidosis.

Autor: Kmochová T; Research Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University, Prague, Czech Republic., Kidd KO; Research Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University, Prague, Czech Republic; Section on Nephrology, Wake Forest University School of Medicine, Winston-Salem, North Carolina, USA., Orr A; Department of Ophthalmology and Visual Sciences, Dalhousie University, Halifax, Nova Scotia, Canada; Department of Pathology, Faculty of Medicine, Dalhousie University, Halifax, Nova Scotia, Canada., Hnízda A; Research Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University, Prague, Czech Republic., Hartmannová H; Research Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University, Prague, Czech Republic., Hodaňová K; Research Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University, Prague, Czech Republic., Vyleťal P; Research Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University, Prague, Czech Republic., Naušová K; Research Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University, Prague, Czech Republic., Brinsa V; Research Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University, Prague, Czech Republic., Trešlová H; Research Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University, Prague, Czech Republic., Sovová J; Research Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University, Prague, Czech Republic., Barešová V; Research Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University, Prague, Czech Republic., Svojšová K; Research Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University, Prague, Czech Republic., Vrbacká A; Research Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University, Prague, Czech Republic., Stránecký V; Research Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University, Prague, Czech Republic., Robins VC; Section on Nephrology, Wake Forest University School of Medicine, Winston-Salem, North Carolina, USA., Taylor A; Section on Nephrology, Wake Forest University School of Medicine, Winston-Salem, North Carolina, USA., Martin L; Section on Nephrology, Wake Forest University School of Medicine, Winston-Salem, North Carolina, USA., Rivas-Chavez A; Section on Nephrology, Wake Forest University School of Medicine, Winston-Salem, North Carolina, USA., Payne R; Section on Nephrology, Wake Forest University School of Medicine, Winston-Salem, North Carolina, USA., Bleyer HA; Section on Nephrology, Wake Forest University School of Medicine, Winston-Salem, North Carolina, USA., Williams A; Section on Nephrology, Wake Forest University School of Medicine, Winston-Salem, North Carolina, USA., Rennke HG; Pathology Department, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts, USA., Weins A; Pathology Department, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts, USA., Short PJ; Sano Genetics Limited, London, UK., Agrawal V; Division of Nephrology and Hypertension, Larner College of Medicine, University of Vermont, Burlington, Vermont, USA., Storsley LJ; Department of Medicine, University of Manitoba, Winnipeg, Manitoba, Canada., Waikar SS; Section of Nephrology, Boston University Chobanian and Avedisian School of Medicine, Boston, Massachusetts, USA., McPhail ED; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA., Dasari S; Department of Quantitative Health Sciences, Mayo Clinic, Rochester, Minnesota, USA., Leung N; Division of Nephrology and Hypertension, Division of Hematology, Mayo Clinic, Rochester, Minnesota, USA., Hewlett T; Division of Nephrology, Department of Medicine, Faculty of Medicine, Dalhousie University, Halifax, Nova Scotia, Canada., Yorke J; Department of Pathology, Faculty of Medicine, Dalhousie University, Halifax, Nova Scotia, Canada., Gaston D; Department of Pathology, Faculty of Medicine, Dalhousie University, Halifax, Nova Scotia, Canada., Geldenhuys L; Department of Pathology, Faculty of Medicine, Dalhousie University, Halifax, Nova Scotia, Canada., Samuels M; Department of Medicine Université de Montréal, Montreal, Quebec, Canada; Department of Biochemistry, Université de Montréal, Montreal, Quebec, Canada; Centre de Recherche du CHU Ste-Justine, Montreal, Quebec, Canada., Levine AP; Research Department of Pathology, University College London, London, UK., West M; Division of Nephrology, Department of Medicine, Faculty of Medicine, Dalhousie University, Halifax, Nova Scotia, Canada., Hůlková H; Research Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University, Prague, Czech Republic; Institute of Pathology, First Faculty of Medicine, Charles University, Prague, Czech Republic., Pompach P; Institute of Microbiology of the Czech Academy of Sciences, Vestec, Czech Republic., Novák P; Institute of Microbiology of the Czech Academy of Sciences, Vestec, Czech Republic., Weinberg RB; Section on Gastroenterology, Department of Internal Medicine, Wake Forest University School of Medicine, Winston-Salem, North Carolina, USA; Department of Physiology and Pharmacology, Wake Forest University School of Medicine, Winston-Salem, North Carolina, USA., Bedard K; Department of Pathology and Laboratory Medicine, Izaak Walton Killam Hospital, Halifax Nova Scotia, Canada., Živná M; Research Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University, Prague, Czech Republic; Section on Nephrology, Wake Forest University School of Medicine, Winston-Salem, North Carolina, USA., Sikora J; Research Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University, Prague, Czech Republic; Institute of Pathology, First Faculty of Medicine, Charles University, Prague, Czech Republic., Bleyer AJ Sr; Research Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University, Prague, Czech Republic; Section on Nephrology, Wake Forest University School of Medicine, Winston-Salem, North Carolina, USA. Electronic address: ableyer@wakehealth.edu., Kmoch S; Research Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University, Prague, Czech Republic; Section on Nephrology, Wake Forest University School of Medicine, Winston-Salem, North Carolina, USA.

Publikováno v: Kidney international [Kidney Int] 2024 Apr; Vol. 105 (4), pp. 799-811. Date of Electronic Publication: 2023 Dec 12.