부산대학교 도서관

Veselá, Š.; Barešová, V.; Lunova, M.; Vyleťal, P.; Mušálková, D.; Strnad, P.; Kmoch, S.; Živná, M.; Jirsa, M.

Čížková, Simona ; Jedlička, Matyáš ; Mušálková, Petra ; Muzika, František ; Rohovec, Jan ; Brányiková, Irena

In Algal Research April 2026 95

Vesela, S.; Baresova, V.; Lunova, M.; Vyletal, P.; Musalkova, D.; Strnad, P.; Kmoch, S.; Zivna, M.; Jirsa, M.

FEBS OPEN BIO; MAR 2026, 16 2p. Supplement: 1

Jakub Sikora; Tereza Kmochová; Dita Mušálková; Michal Pohludka; Petr Přikryl; Hana Hartmannová; Kateřina Hodaňová; Helena Trešlová; Lenka Nosková; Lenka Mrázová; Viktor Stránecký; Mariia Lunová; Milan Jirsa; Eva Honsová; Surendra Dasari; Ellen D. McPhail; Nelson Leung; Martina Živná; Anthony J. Bleyer; Ivan Rychlík; Romana Ryšavá; Stanislav Kmoch

Kidney International. 101:349-359

Mušálková D; Research Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University, Prague, Czech Republic.; Radina M; Research Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University, Prague, Czech Republic.; Kidd K; 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.; Hartmannová H; 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.; 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.; Vrbacká A; Research Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University, Prague, Czech Republic.; Votruba M; Research Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University, Prague, Czech Republic.; Sanchez A; Section on Nephrology, Wake Forest University School of Medicine, Winston-Salem, North Carolina.; Martin L; Section on Nephrology, Wake Forest University School of Medicine, Winston-Salem, North Carolina.; Taylor A; Section on Nephrology, Wake Forest University School of Medicine, Winston-Salem, North Carolina.; Kim A; Section on Nephrology, Wake Forest University School of Medicine, Winston-Salem, North Carolina.; Rudl Kulhavá L; Institute of Physiology of the Czech Academy of Sciences, Prague, Czech Republic.; Hricko J; Institute of Physiology of the Czech Academy of Sciences, Prague, Czech Republic.; Čajka T; Institute of Physiology of the Czech Academy of Sciences, Prague, Czech Republic.; 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.; Bleyer AJ; 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.; 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.

Publisher: Wolters Kluwer Health, Inc. on behalf of the American Society of Nephrology Country of Publication: United States NLM ID: 101766381 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2641-7650 (Electronic) Linking ISSN: 26417650 NLM ISO Abbreviation: Kidney360 Subsets: MEDLINE; In Process

Zivna, M.; Dostalova, G.; Baresova, V.; Musalkova, D.; Kuchar, L.; Asfaw, B.; Poupetova, H.; Vlaskova, H.; Kmochova, T.; Vyletal, P.; Hartmannova, H.; Hodanova, K.; Steiner-Mrazova, L.; Hnizda, A.; Suneghova, K.; Treslova, H.; Rekova, P.; Roblova, L.; Honsova, E.; Hulkova, H.; Rychlik, I.; Bleyer, A.; Linhart, A.; Sikora, J.; Kmoch, S.

MOLECULAR BIOLOGY OF THE CELL; JAN 1 2024, 35 1, 25p.

Vrbacká A; Research Unit of Rare Diseases, Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University, Prague, Czech Republic.; Přistoupilová A; Research Unit of Rare Diseases, Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University, Prague, Czech Republic.; Kidd KO; Research Unit of Rare Diseases, Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University, Prague, Czech Republic.; Wake Forest University School of Medicine, Section on Nephrology, Winston-Salem, North Carolina, USA.; Janoušek V; Research Unit of Rare Diseases, Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University, Prague, Czech Republic.; Radina M; Research Unit of Rare Diseases, Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University, Prague, Czech Republic.; Vyleťal P; Research Unit of Rare Diseases, Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University, Prague, Czech Republic.; Bitar I; Department of Microbiology, Faculty of Medicine and University Hospital Pilsen, Charles University, Pilsen, Czechia.; Biomedical Center, Faculty of Medicine, Charles University, Pilsen, Czechia.; Stránecký V; Research Unit of Rare Diseases, Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University, Prague, Czech Republic.; Steiner-Mrázová L; Research Unit of Rare Diseases, Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University, Prague, Czech Republic.; Trešlová H; Research Unit of Rare Diseases, Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University, Prague, Czech Republic.; Sovová J; Research Unit of Rare Diseases, Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University, Prague, Czech Republic.; Hodaňová K; Research Unit of Rare Diseases, Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University, Prague, Czech Republic.; Hartmannová H; Research Unit of Rare Diseases, Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University, Prague, Czech Republic.; Mušálková D; Research Unit of Rare Diseases, Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University, Prague, Czech Republic.; Svojšová K; Research Unit of Rare Diseases, Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University, Prague, Czech Republic.; Kmochová T; Research Unit of Rare Diseases, Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University, Prague, Czech Republic.; Barešová V; Research Unit of Rare Diseases, Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University, Prague, Czech Republic.; Taylor A; Wake Forest University School of Medicine, Section on Nephrology, Winston-Salem, North Carolina, USA.; Martin L; Wake Forest University School of Medicine, Section on Nephrology, Winston-Salem, North Carolina, USA.; Sanchez A; Wake Forest University School of Medicine, Section on Nephrology, Winston-Salem, North Carolina, USA.; Ryšavá R; Department of Nephrology, First Faculty of Medicine, Charles University in Prague and General Teaching Hospital in Prague, Prague, Czech Republic.; Lajtmanová I; B. Braun Avitum, Bratislava, Slovakia.; Rajnochová-Bloudíčková S; Department of Nephrology, Transplant Centre, Institute for Clinical and Experimental Medicine, Videnska 1958, Prague 14021, Czech Republic.; Viklický O; Department of Nephrology, Transplant Centre, Institute for Clinical and Experimental Medicine, Videnska 1958, Prague 14021, Czech Republic.; Papagregorius G; Molecular Medicine Research Center, biobank.cy Center of Excellence in Biobanking and Biomedical Research, University of Cyprus, Nicosia, Cyprus.; Deltas C; Molecular Medicine Research Center, biobank.cy Center of Excellence in Biobanking and Biomedical Research, University of Cyprus, Nicosia, Cyprus.; Medical School, University of Cyprus, Nicosia, Cyprus.; Stavrou C; Evangelismos Private Hospital, Pafos, Cyprus.; Jorge S; Department of Nephrology and Renal Transplant, Hospital de Santa Maria, CHULN, EPE, Lisbon, Portugal.; Lopes JA; Department of Nephrology and Renal Transplant, Hospital de Santa Maria, CHULN, EPE, Lisbon, Portugal.; Rodrigues M; Department of Medical Genetics, Hospital de Santa Maria, ULSSM, Lisbon, Portugal.; Elhassan E; Department of Nephrology Beaumont Hospital Dublin Ireland.; Clince M; Department of Nephrology Beaumont Hospital Dublin Ireland.; Rowan C; Department of Nephrology Beaumont Hospital Dublin Ireland.; Conlon P; Department of Nephrology and Renal Transplant, Hospital de Santa Maria, CHULN, EPE, Lisbon, Portugal.; Department of Medicine, Royal College of Surgeons, Dublin, Ireland.; Teltsh O; School of Pharmacy and Biomolecular Sciences, Royal College of Surgeons, Dublin, Ireland.; Cavalleri GL; Department of Nephrology and Renal Transplant, Hospital de Santa Maria, CHULN, EPE, Lisbon, Portugal.; Blumenstiel B; Broad Clinical Labs, The Broad Institute, Cambridge, Massachusetts, USA.; Toledo D; Broad Clinical Labs, The Broad Institute, Cambridge, Massachusetts, USA.; DiStefano M; Broad Clinical Labs, The Broad Institute, Cambridge, Massachusetts, USA.; DeFelice M; Broad Clinical Labs, The Broad Institute, Cambridge, Massachusetts, USA.; Živná M; Research Unit of Rare Diseases, Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University, Prague, Czech Republic.; Wake Forest University School of Medicine, Section on Nephrology, Winston-Salem, North Carolina, USA.; Bleyer AJ Sr; Research Unit of Rare Diseases, Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University, Prague, Czech Republic.; Wake Forest University School of Medicine, Section on Nephrology, Winston-Salem, North Carolina, USA.; Kmoch S; Research Unit of Rare Diseases, Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University, Prague, Czech Republic.; Wake Forest University School of Medicine, Section on Nephrology, Winston-Salem, North Carolina, USA.

Country of Publication: United States NLM ID: 101680187 Publication Model: Electronic Cited Medium: Internet ISSN: 2692-8205 (Electronic) Linking ISSN: 26928205 NLM ISO Abbreviation: bioRxiv Subsets: PubMed not MEDLINE

Šilhavý J; Institute of Physiology, Czech Academy of Sciences, Prague, Czech Republic.; Mlejnek P; Institute of Physiology, Czech Academy of Sciences, Prague, Czech Republic.; Šimáková M; Institute of Physiology, Czech Academy of Sciences, Prague, Czech Republic.; Liška F; Institute of Physiology, Czech Academy of Sciences, Prague, Czech Republic.; Institute of Biology and Medical Genetics, First Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic.; Malínská H; Center for Experimental Medicine, Institute for Clinical and Experimental Medicine, Prague, Czech Republic.; Marková I; Center for Experimental Medicine, Institute for Clinical and Experimental Medicine, Prague, Czech Republic.; Hüttl M; Center for Experimental Medicine, Institute for Clinical and Experimental Medicine, Prague, Czech Republic.; Miklánková D; Center for Experimental Medicine, Institute for Clinical and Experimental Medicine, Prague, Czech Republic.; Mušálková D; Institute for Inherited Metabolic Disorders, First Faculty of Medicine, Charles University, Prague, Czech Republic.; Stránecký V; Institute for Inherited Metabolic Disorders, First Faculty of Medicine, Charles University, Prague, Czech Republic.; Kmoch S; Institute for Inherited Metabolic Disorders, First Faculty of Medicine, Charles University, Prague, Czech Republic.; Sticová E; Center for Experimental Medicine, Institute for Clinical and Experimental Medicine, Prague, Czech Republic.; Department of Pathology, Third Faculty of Medicine, Charles University, Prague, Czech Republic.; Vrbacký M; Institute of Physiology, Czech Academy of Sciences, Prague, Czech Republic.; Mráček T; Institute of Physiology, Czech Academy of Sciences, Prague, Czech Republic.; Pravenec M; Institute of Physiology, Czech Academy of Sciences, Prague, Czech Republic.; Institute of Biology and Medical Genetics, First Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic.

Publisher: American Physiological Society Country of Publication: United States NLM ID: 9815683 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1531-2267 (Electronic) Linking ISSN: 10948341 NLM ISO Abbreviation: Physiol Genomics Subsets: MEDLINE

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.

Publisher: Wolters Kluwer Health, on behalf of the American Society of Nephrology Country of Publication: United States NLM ID: 9013836 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1533-3450 (Electronic) Linking ISSN: 10466673 NLM ISO Abbreviation: J Am Soc Nephrol Subsets: MEDLINE; In Process

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 in Prague, Prague, Czech Republic.; Přistoupilová 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 in Prague, Prague, Czech Republic.; Jedličková I; Research Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, 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 in Prague, 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 in Prague, Prague, Czech Republic.; Nosková 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 in Prague, 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 in Prague, Prague, Czech Republic.; Bittmanová 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 in Prague, 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 in Prague, Prague, Czech Republic.; Jiřička V; Department of Psychology, Prison Service of the Czech Republic, Prague, Czech Republic.; Department of Psychiatry, Faculty of Medicine in Pilsen, Charles University, Pilsen, Czech Republic.; Langmajerová M; Department of Psychiatry, Faculty of Medicine in Pilsen, Charles University, Pilsen, Czech Republic.; Woodbury-Smith M; The Centre for Applied Genomics and Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.; Faculty of Medical Sciences, Biosciences Institute, Newcastle University, Newcastle upon Tyne, UK.; Zarrei M; The Centre for Applied Genomics and Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.; Trost B; The Centre for Applied Genomics and Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.; Scherer SW; The Centre for Applied Genomics and Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.; Department of Molecular Genetics and McLaughlin Centre, University of Toronto, Toronto, Ontario, Canada.; 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 in Prague, Prague, Czech Republic.; Section on Nephrology, Wake Forest School of Medicine, Winston-Salem, North Carolina, USA.; Vevera J; Department of Psychiatry, Faculty of Medicine in Pilsen, Charles University, Pilsen, Czech Republic.; Department of Psychiatry, University Hospital Pilsen, Pilsen, 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 in Prague, Prague, Czech Republic.; Department of Psychiatry, Faculty of Medicine in Pilsen, Charles University, Pilsen, Czech Republic.

Publisher: Munksgaard Country of Publication: England NLM ID: 101129617 Publication Model: Print Cited Medium: Internet ISSN: 1601-183X (Electronic) Linking ISSN: 1601183X NLM ISO Abbreviation: Genes Brain Behav Subsets: MEDLINE

M, Řeboun; J, Rybová; R, Dobrovolný; J, Včelák; T, Veselková; G, Štorkánová; D, Mušálková; M, Hřebíček; J, Ledvinová; M, Magner; J, Zeman; K, Pešková; L, Dvořáková

Folia Biologica. 62:82-89

D, Mušálková; J, Lukáš; F, Majer; O, Hřebíček; E, Svobodová; L, Kuchař; J, Honzíková; H, Hůlková; J, Ledvinová; M, Hřebíček

Folia Biologica. 59:41-46

Elhassan EAE; Department of Nephrology and Transplantation, Beaumont Hospital, Dublin, Ireland.; Department of Medicine, Royal College of Surgeons in Ireland, Dublin, Ireland.; Kmochová T; Research Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague, Prague, Czech Republic.; Benson KA; School of Pharmacy and Biomolecular Sciences, Royal College of Surgeons, Dublin, Ireland.; Fennelly NK; Department of Pathology, Beaumont Hospital, Dublin, Ireland.; Barešová V; Research Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague, Prague, Czech Republic.; Kidd K; Research Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague, Prague, Czech Republic.; Section on Nephrology, Wake Forest School of Medicine, Winston-Salem, North Carolina, USA.; Doyle B; Department of Pathology, Beaumont Hospital, Dublin, Ireland.; Dorman A; Department of Pathology, Beaumont Hospital, Dublin, Ireland.; Morrin MM; Department of Radiology, Beaumont Hospital and Royal College of Surgeons in Ireland, Dublin, Ireland.; Kyne NC; Department of Nephrology and Transplantation, Beaumont Hospital, Dublin, Ireland.; Vyleťal P; Research Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague, 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, 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, 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, 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, Prague, Czech Republic.; Vrbacká A; Research Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague, Prague, Czech Republic.; Přistoupilová A; Research Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague, 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, 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, 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, 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, Prague, Czech Republic.; Loginov D; Institute of Microbiology, The Czech Academy of Sciences, Vestec, Czech Republic.; Pompach P; Institute of Microbiology, The Czech Academy of Sciences, Vestec, Czech Republic.; Novák P; Institute of Microbiology, The Czech Academy of Sciences, Vestec, Czech Republic.; Vaníčková Z; Institute of Medical Biochemistry and Laboratory Diagnostics of the General University Hospital and of The First Faculty of medicine of Charles University in Prague, Prague, Czech Republic.; Hansíková H; Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague, Prague, Czech Republic.; Rajnochová-Bloudíčková S; Department of Nephrology, Transplant Center, Institute for Clinical and Experimental Medicine, Prague, Czech Republic.; Viklický O; Department of Nephrology, Transplant Center, Institute for Clinical and Experimental Medicine, Prague, Czech Republic.; Hůlková H; Research Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague, Prague, Czech Republic.; Cavalleri GL; School of Pharmacy and Biomolecular Sciences, Royal College of Surgeons, Dublin, Ireland.; Hnízda A; Research Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague, Prague, Czech Republic.; Bleyer AJ; Research Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague, Prague, Czech Republic.; Section on Nephrology, Wake Forest School of Medicine, Winston-Salem, North Carolina, USA.; Kmoch S; Research Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague, Prague, Czech Republic.; Section on Nephrology, Wake Forest School of Medicine, Winston-Salem, North Carolina, USA.; Conlon PJ; Department of Nephrology and Transplantation, Beaumont Hospital, Dublin, Ireland.; Department of Medicine, Royal College of Surgeons in Ireland, Dublin, Ireland.; Živná M; Research Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague, Prague, Czech Republic.; Section on Nephrology, Wake Forest School of Medicine, Winston-Salem, North Carolina, USA.

Publisher: Elsevier Country of Publication: United States NLM ID: 101684752 Publication Model: eCollection Cited Medium: Internet ISSN: 2468-0249 (Electronic) Linking ISSN: 24680249 NLM ISO Abbreviation: Kidney Int Rep Subsets: PubMed not MEDLINE

Kubanek, M.; Binova, J.; Krebsova, A.; Kotrc, M.; Melenovsky, V.; Kautzner, J.; Piherova, L.; Hartmannova, H.; Hodanova, K.; Musalkova, D.; Stranecky, V.; Kmoch, S.; Palecek, T.; Chaloupka, A.; Grochova, I.; Krejci, J.; Petrkova, J.

In: ESC Heart Failure. (ESC Heart Failure, December 2024, 11(6):4127-4138)

Řeboun M; Diagnostic laboratories of IMD, Department of Pediatrics and Inherited Metabolic Disorders, 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 and General University Hospital, Prague, Czech Republic.; Institute of Pathology, First Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic.; Magner M; Diagnostic laboratories of IMD, Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic.; Department of Pediatrics, Thomayer University Hospital and First Faculty of Medicine, Charles University, Prague, Czech Republic.; Wiederlechnerová H; Diagnostic laboratories of IMD, Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic.; Černá A; Diagnostic laboratories of IMD, Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic.; Poupětová H; Diagnostic laboratories of IMD, Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic.; Štorkánova G; Diagnostic laboratories of IMD, Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University 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 and General University Hospital, Prague, Czech Republic.; Dostálová G; Second Department of Internal Cardiovascular Medicine, First Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic.; Goláň L; Second Department of Internal Cardiovascular Medicine, First Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic.; Linhart A; Second Department of Internal Cardiovascular Medicine, First Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic.; Dvořáková L; Diagnostic laboratories of IMD, Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic.

Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

Majer F; Research Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University 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 and General University Hospital, Prague, Czech Republic.; Kuchař L; Research Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University 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 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 and General University Hospital, Prague, Czech Republic.; Dobrovolný R; Research Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic.; Ledvinová J; Research Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic.; Hřebíček M; Research Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic.

Publisher: Wiley Country of Publication: United States NLM ID: 7910918 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-2665 (Electronic) Linking ISSN: 01418955 NLM ISO Abbreviation: J Inherit Metab Dis Subsets: MEDLINE

Hrebicek, M.; Jahnova, H.; Dvorakova, L.; Majer, F.; Musalkova, D.; Ledvinova, J.; Kuchar, L.

CESKA A SLOVENSKA NEUROLOGIE A NEUROCHIRURGIE; 2020, 83 3, p263-p268, 6p.

Musalkova, D.; Piherova, L.; Hartmannova, H.; Bleyer, A.J.; Kmoch, S.; Kwasny, O.; Dindova, Z.; Stancik, L.; Pargac, J.; Radina, M.; Slama, O.; Peckova, P.; Minarik, G.; Zima, T.; Pohludka, M.

In: Scientific Reports. (Scientific Reports, December 2023, 13(1))

Zikánová M; Institute of Inherited Metabolic Disorders, First Faculty of Medicine, Charles University, Prague, Czech Republic.; Wahezi D; Pediatric Rheumatology, Children's Hospital at Montefiore, Bronx, NY, USA.; Hay A; Pediatric Rheumatology, Nicklaus Children's Hospital, Miami, FL, USA.; Stiburková B; Institute of Inherited Metabolic Disorders, First Faculty of Medicine, Charles University, Prague, Czech Republic.; Institute of Rheumatology, Prague, Czech Republic.; Pitts C 3rd; Section on Nephrology, Wake Forest School of Medicine, Winston-Salem, NC.; Mušálková D; Institute of Inherited Metabolic Disorders, First Faculty of Medicine, Charles University, Prague, Czech Republic.; Škopová V; Institute of Inherited Metabolic Disorders, First Faculty of Medicine, Charles University, Prague, Czech Republic.; Barešová V; Institute of Inherited Metabolic Disorders, First Faculty of Medicine, Charles University, Prague, Czech Republic.; Soucková O; Institute of Inherited Metabolic Disorders, First Faculty of Medicine, Charles University, Prague, Czech Republic.; Hodanová K; Institute of Inherited Metabolic Disorders, First Faculty of Medicine, Charles University, Prague, Czech Republic.; Živná M; Institute of Inherited Metabolic Disorders, First Faculty of Medicine, Charles University, Prague, Czech Republic.; Stránecký V; Institute of Inherited Metabolic Disorders, First Faculty of Medicine, Charles University, Prague, Czech Republic.; Hartmannová H; Institute of Inherited Metabolic Disorders, First Faculty of Medicine, Charles University, Prague, Czech Republic.; Hnízda A; Institute of Organic Chemistry and Biochemistry, Academy of Sciences of the Czech Republic, Prague, Czech Republic.; Bleyer AJ; Institute of Inherited Metabolic Disorders, First Faculty of Medicine, Charles University, Prague, Czech Republic.; Section on Nephrology, Wake Forest School of Medicine, Winston-Salem, NC.; Kmoch S; Institute of Inherited Metabolic Disorders, First Faculty of Medicine, Charles University, Prague, Czech Republic.; Section on Nephrology, Wake Forest School of Medicine, Winston-Salem, NC.

Publisher: Oxford University Press Country of Publication: England NLM ID: 100883501 Publication Model: Print Cited Medium: Internet ISSN: 1462-0332 (Electronic) Linking ISSN: 14620324 NLM ISO Abbreviation: Rheumatology (Oxford) Subsets: MEDLINE

Vevera J; Department of Psychiatry, Faculty of Medicine and University Hospital in Pilsen, Charles University, Prague, Czech Republic.; Department of Psychiatry, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.; Institute for Postgraduate Medical Education, Prague, Czech Republic.; Psychology Department, National Institute of Mental Health, Klecany, Czech Republic.; Zarrei M; The Centre for Applied Genomics and Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.; Hartmannová H; Research Unit for Rare Diseases, Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University, Prague, Czech Republic.; Jedličková I; Research Unit for Rare Diseases, Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University, Prague, Czech Republic.; Mušálková D; Research Unit for Rare Diseases, Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University, Prague, Czech Republic.; Přistoupilová A; Research Unit for Rare Diseases, Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University, Prague, Czech Republic.; Oliveriusová P; Research Unit for Rare Diseases, Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University, Prague, Czech Republic.; Trešlová H; Research Unit for Rare Diseases, Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University, Prague, Czech Republic.; Nosková L; Research Unit for Rare Diseases, Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University, Prague, Czech Republic.; Hodaňová K; Research Unit for Rare Diseases, Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University, Prague, Czech Republic.; Stránecký V; Research Unit for Rare Diseases, Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University, Prague, Czech Republic.; Jiřička V; Prison Service of the Czech Republic, Directorate General, Department of Psychology, Prague, Czech Republic.; Preiss M; Psychology Department, National Institute of Mental Health, Klecany, Czech Republic.; Psychology Department, University of New York in Prague, Prague, Czech Republic.; Příhodová K; Psychology Department, National Institute of Mental Health, Klecany, Czech Republic.; Šaligová J; Children's Faculty Hospital, Department of Pediatrics and Adolescent Medicine, Kosice, Slovakia.; Department of Pediatrics and Adolescent Medicine, Faculty of Medicine of Pavel Jozef Šafárik University Kosice, Kosice, Slovakia.; Wei J; The Centre for Applied Genomics and Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.; Woodbury-Smith M; The Centre for Applied Genomics and Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.; Institute of Neuroscience, Newcastle University, Sir James Spence Institute, Royal Victoria Infirmary, Newcastle upon Tyne, UK.; Bleyer AJ; Research Unit for Rare Diseases, Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University, Prague, Czech Republic.; Section on Nephrology, Wake Forest School of Medicine, Medical Center Blvd., Winston-Salem, North Carolina, USA.; Scherer SW; The Centre for Applied Genomics and Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.; Department of Molecular Genetics and McLaughlin Centre, University of Toronto, Toronto, Ontario, Canada.; Kmoch S; Research Unit for Rare Diseases, Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University, Prague, Czech Republic.

Publisher: Munksgaard Country of Publication: England NLM ID: 101129617 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1601-183X (Electronic) Linking ISSN: 1601183X NLM ISO Abbreviation: Genes Brain Behav Subsets: MEDLINE