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Význam nových laboratorních technik v dia gnostice Niemann-Pickovy choroby typu C. (Czech)

Autor: Hřebíček, M., Jahnová, H., Dvořáková, L., Majer, F., Mušálková, D., Ledvinová, J., Kuchař, L.

Publikováno v: Česká a Slovenská Neurologie a Neurochirurgie; 2020, Vol. 83 Issue 3, p263-268, 6p

Combined Adenine Phosphoribosyltransferase and N-acetylgalactosamine-6-sulfate Sulfatase Deficiency

Autor: Wang, L., Ou, X., Sebesta, I., Vondrak, K., Krijt, J., Elleder, M., Poupetova, H., Ledvinova, J., Zeman, J., Simmonds, H.A., Tischfield, J.A., Sahota, A.

Publikováno v: In Molecular Genetics and Metabolism September 1999 68(1):78-85

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.