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Wyszukujesz frazę ""Mathews KD"" wg kryterium: Autor


Tytuł:
Defining clinical endpoints in limb girdle muscular dystrophy: a GRASP-LGMD study.
Autorzy:
Doody A; Virginia Commonwealth University, Richmond, VA, USA.
Alfano L; Nationwide Children's Hospital, Columbus, OH, USA.
Diaz-Manera J; Newcastle University, Newcastle, UK.
Lowes L; Nationwide Children's Hospital, Columbus, OH, USA.
Mozaffar T; University of California, Irvine, CA, USA.
Mathews KD; University of Iowa Carver College of Medicine, Iowa City, IA, USA.
Weihl CC; Washington University, St. Louis, MO, USA.
Wicklund M; UT Health San Antonio, San Antonio, TX, USA.
Hung M; Roseman University, Salt Lake City, UT, USA.
Statland J; University of Kansas Medical Center, Kansas City, KS, USA.
Johnson NE; Virginia Commonwealth University, Richmond, VA, USA. .
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Corporate Authors:
GRASP-LGMD Consortium
Źródło:
BMC neurology [BMC Neurol] 2024 Mar 15; Vol. 24 (1), pp. 96. Date of Electronic Publication: 2024 Mar 15.
Typ publikacji:
Journal Article
Czasopismo naukowe
Tytuł:
Gastrointestinal and genitourinary symptoms in facioscapulohumeral muscular dystrophy: Prevalence and impact.
Autorzy:
Cole MR; Department of Pediatrics, University of Iowa Hospitals and Clinics, Iowa City, Iowa, USA.
Cooper CS; Department of Urology, University of Iowa Hospitals and Clinics, Iowa City, Iowa, USA.
Hanna EM; Department of Pediatrics, University of Iowa Hospitals and Clinics, Iowa City, Iowa, USA.
Zimmerman MB; Department of Biostatistics, University of Iowa College of Public Health, Iowa City, Iowa, USA.
Kinoshita J; FSHD Society, Randolph, Massachusetts, USA.
Mathews KD; Department of Pediatrics, University of Iowa Hospitals and Clinics, Iowa City, Iowa, USA.
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Źródło:
Muscle & nerve [Muscle Nerve] 2024 Mar; Vol. 69 (3), pp. 325-333. Date of Electronic Publication: 2023 Dec 29.
Typ publikacji:
Journal Article
MeSH Terms:
Muscular Dystrophy, Facioscapulohumeral*/complications
Muscular Dystrophy, Facioscapulohumeral*/diagnosis
Muscular Dystrophy, Facioscapulohumeral*/epidemiology
Humans ; Adolescent ; Quality of Life ; Cross-Sectional Studies ; Prevalence ; Surveys and Questionnaires
Czasopismo naukowe
Tytuł:
Adaptive Long-Read Sequencing Reveals GGC Repeat Expansion in ZFHX3 Associated with Spinocerebellar Ataxia Type 4.
Autorzy:
Chen Z; Department of Neurodegenerative Disease, Queen Square Institute of Neurology, University College London, London, United Kingdom.; Department of Genetics and Genomic Medicine, Great Ormond Street Institute of Child Health, University College London, London, United Kingdom.; NIHR Great Ormond Street Hospital Biomedical Research Centre, University College London, London, United Kingdom.
Gustavsson EK; Department of Genetics and Genomic Medicine, Great Ormond Street Institute of Child Health, University College London, London, United Kingdom.; NIHR Great Ormond Street Hospital Biomedical Research Centre, University College London, London, United Kingdom.
Macpherson H; Department of Neurodegenerative Disease, Queen Square Institute of Neurology, University College London, London, United Kingdom.; Department of Genetics and Genomic Medicine, Great Ormond Street Institute of Child Health, University College London, London, United Kingdom.
Anderson C; Department of Genetics and Genomic Medicine, Great Ormond Street Institute of Child Health, University College London, London, United Kingdom.; NIHR Great Ormond Street Hospital Biomedical Research Centre, University College London, London, United Kingdom.
Clarkson C; William Harvey Research Institute, Queen Mary University of London, London, United Kingdom.
Rocca C; Department of Neuromuscular Disease, Queen Square Institute of Neurology, University College London, London, United Kingdom.
Self E; Department of Neuromuscular Disease, Queen Square Institute of Neurology, University College London, London, United Kingdom.
Alvarez Jerez P; Department of Neurodegenerative Disease, Queen Square Institute of Neurology, University College London, London, United Kingdom.; Center for Alzheimer's and Related Dementias, National Institute on Aging and National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA.
Scardamaglia A; Department of Neuromuscular Disease, Queen Square Institute of Neurology, University College London, London, United Kingdom.
Pellerin D; Department of Neuromuscular Disease, Queen Square Institute of Neurology, University College London, London, United Kingdom.
Montgomery K; Department of Genetics and Genomic Medicine, Great Ormond Street Institute of Child Health, University College London, London, United Kingdom.; NIHR Great Ormond Street Hospital Biomedical Research Centre, University College London, London, United Kingdom.
Lee J; Department of Neuromuscular Disease, Queen Square Institute of Neurology, University College London, London, United Kingdom.
Gagliardi D; Department of Neuromuscular Disease, Queen Square Institute of Neurology, University College London, London, United Kingdom.
Luo H; Department of Neuromuscular Disease, Queen Square Institute of Neurology, University College London, London, United Kingdom.
Hardy J; Department of Neurodegenerative Disease, Queen Square Institute of Neurology, University College London, London, United Kingdom.; Reta Lila Weston Institute, Queen Square Institute of Neurology, University College London, London, United Kingdom.; UK Dementia Research Institute, University College London, London, United Kingdom.; NIHR University College London Hospitals Biomedical Research Centre, London, United Kingdom.; Institute for Advanced Study, The Hong Kong University of Science and Technology, Hong Kong, China.
Polke J; The Neurogenetics Laboratory, National Hospital for Neurology and Neurosurgery, London, United Kingdom.
Singleton AB; Center for Alzheimer's and Related Dementias, National Institute on Aging and National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA.; Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, USA.
Blauwendraat C; Center for Alzheimer's and Related Dementias, National Institute on Aging and National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA.; Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, USA.
Mathews KD; Department of Pediatrics, University of Iowa Carver College of Medicine, Iowa City, Iowa, USA.; Department of Neurology, University of Iowa Carver College of Medicine, Iowa City, Iowa, USA.
Tucci A; William Harvey Research Institute, Queen Mary University of London, London, United Kingdom.
Fu YH; Department of Neurology, University of California San Francisco, San Francisco, California, USA.; Institute for Human Genetics, University of California San Francisco, San Francisco, California, USA.; Weill Institute for Neuroscience, University of California San Francisco, San Francisco, California, USA.; Kavli Institute for Fundamental Neuroscience, University of California San Francisco, San Francisco, California, USA.
Houlden H; Department of Neuromuscular Disease, Queen Square Institute of Neurology, University College London, London, United Kingdom.; The Neurogenetics Laboratory, National Hospital for Neurology and Neurosurgery, London, United Kingdom.
Ryten M; Department of Genetics and Genomic Medicine, Great Ormond Street Institute of Child Health, University College London, London, United Kingdom.; NIHR Great Ormond Street Hospital Biomedical Research Centre, University College London, London, United Kingdom.
Ptáček LJ; Department of Neurology, University of California San Francisco, San Francisco, California, USA.; Institute for Human Genetics, University of California San Francisco, San Francisco, California, USA.; Weill Institute for Neuroscience, University of California San Francisco, San Francisco, California, USA.; Kavli Institute for Fundamental Neuroscience, University of California San Francisco, San Francisco, California, USA.
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Corporate Authors:
Genomics England Research Consortium
Źródło:
Movement disorders : official journal of the Movement Disorder Society [Mov Disord] 2024 Jan 10. Date of Electronic Publication: 2024 Jan 10.
Typ publikacji:
Journal Article
Czasopismo naukowe
Tytuł:
Propensity matched comparison of omaveloxolone treatment to Friedreich ataxia natural history data.
Autorzy:
Lynch DR; Departments of Pediatrics and Neurology, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
Goldsberry A; Reata Pharmaceuticals, Dallas, Texas, USA.
Rummey C; Clinical Data Science GmbH, Basel, Switzerland.
Farmer J; Friedreich Ataxia Research Alliance, Downingtown, Pennsylvania, USA.
Boesch S; Department of Neurology, Medical University Innsbruck, Innsbruck, Austria.
Delatycki MB; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Victoria, Australia.
Giunti P; University College London Hospital, Bloomsbury, London, UK.
Hoyle JC; Department of Neurology, Ohio State University College of Medicine, Columbus, Ohio, USA.
Mariotti C; IRCCS - Istituto Neurologico Carlo Besta, Milan, Lombardy, Italy.
Mathews KD; Department of Pediatrics, University of Iowa Carver College of Medicine, Iowa City, Iowa, USA.
Nachbauer W; Department of Neurology, Medical University Innsbruck, Innsbruck, Austria.
Perlman S; Department of Neurology, University of California Los Angeles, Los Angeles, California, USA.
Subramony SH; Department of Neurology, McKnight Brain Institute, University of Florida Health System, Gainesville, Florida, USA.
Wilmot G; Department of Neurology, Emory University School of Medicine, Atlanta, Georgia, USA.
Zesiewicz T; Department of Neurology, University of South Florida Ataxia Research Center, Tampa, Florida, USA.
Weissfeld L; WCG-Statistics Collaborative, Washington, DC, USA.
Meyer C; Reata Pharmaceuticals, Dallas, Texas, USA.
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Źródło:
Annals of clinical and translational neurology [Ann Clin Transl Neurol] 2024 Jan; Vol. 11 (1), pp. 4-16. Date of Electronic Publication: 2023 Sep 10.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Friedreich Ataxia*/drug therapy
Triterpenes*
Humans ; Longitudinal Studies ; Outcome Assessment, Health Care ; Male ; Female ; Clinical Trials as Topic
Czasopismo naukowe
Tytuł:
Prophylactic use of cardiac medications for delay of left ventricular dysfunction in Duchenne muscular dystrophy.
Autorzy:
Conway KM; Department of Epidemiology, College of Public Health, The University of Iowa, Iowa City, Iowa, USA.
Thomas S; New York State Department of Health, Albany, New York, USA.
Ciafaloni E; Department of Neurology, School of Medicine and Dentistry, University of Rochester Medical Center, Rochester, New York, USA.
Khan RS; Department of Pediatrics, UCLA Health Sciences, Los Angeles, California, USA.; Department of Pediatrics, Roy J and Lucille A Carver College of Medicine, The University of Iowa, Iowa City, Iowa, USA.
Mann JR; Department of Preventive Medicine, School of Medicine and John D. Bower School of Population Health, University of Mississippi Medical Center, Jackson, Mississippi, USA.
Romitti PA; Department of Epidemiology, College of Public Health, The University of Iowa, Iowa City, Iowa, USA.
Mathews KD; Department of Pediatrics, Roy J and Lucille A Carver College of Medicine, The University of Iowa, Iowa City, Iowa, USA.
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Corporate Authors:
Muscular Dystrophy Surveillance, Tracking and Research Network (MD STARnet)
Źródło:
Birth defects research [Birth Defects Res] 2024 Jan; Vol. 116 (1), pp. e2260. Date of Electronic Publication: 2023 Oct 18.
Typ publikacji:
Journal Article
MeSH Terms:
Muscular Dystrophy, Duchenne*/complications
Muscular Dystrophy, Duchenne*/drug therapy
Ventricular Dysfunction, Left*/drug therapy
Ventricular Dysfunction, Left*/complications
Male ; Humans ; Adolescent ; Retrospective Studies ; Heart ; Adrenal Cortex Hormones/therapeutic use
Czasopismo naukowe
Tytuł:
Thirty-Year Follow-Up of Early Onset Amyotrophic Lateral Sclerosis with a Pathogenic Variant in SPTLC1.
Autorzy:
Ajjarapu A; Department of Pediatrics, University of Iowa Carver College of Medicine, Iowa City, IA, USA.
Feely SME; Division of Pediatric Neurology, Seattle Children's Hospital, University of Washington School of Medicine, Seattle, WA, USA.
Shy ME; Department of Neurology, University of Iowa Carver College of Medicine, Iowa City, IA, USA.
Trout C; Department of Pediatrics, University of Iowa Carver College of Medicine, Iowa City, IA, USA.
Zuchner S; Department of Human Genetics and Hussmann Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA.
Moore SA; Department of Pathology, University of Iowa Carver College of Medicine, Iowa City, IA, USA.
Mathews KD; Department of Neurology, University of Iowa Carver College of Medicine, Iowa City, IA, USA.; Department of Pediatrics, University of Iowa Carver College of Medicine, Iowa City, IA, USA.
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Źródło:
Case reports in neurology [Case Rep Neurol] 2023 Jun 12; Vol. 15 (1), pp. 146-152. Date of Electronic Publication: 2023 Jun 12 (Print Publication: 2023).
Typ publikacji:
Case Reports
Raport
Tytuł:
Pain interference and fatigue in limb-girdle muscular dystrophy R9.
Autorzy:
Reelfs AM; University of Iowa Carver College of Medicine, 375 Newton Rd, Iowa City, IA 52242, United States.
Stephan CM; Department of Pediatrics, University of Iowa Carver College of Medicine, 200 Hawkins Drive Iowa City, IA 52242, United States.
Mockler SRH; Center for Disabilities and Development, University of Iowa Stead Family Children's Hospital, 100 Hawkins Drive, Iowa City, IA 52242, United States.
Laubscher KM; Center for Disabilities and Development, University of Iowa Stead Family Children's Hospital, 100 Hawkins Drive, Iowa City, IA 52242, United States.
Zimmerman MB; Department of Biostatistics, College of Public Health, University of Iowa, 145N. Riverside Drive, Iowa City, IA 52242, United States.
Mathews KD; Department of Pediatrics, University of Iowa Carver College of Medicine, 200 Hawkins Drive Iowa City, IA 52242, United States; Department of Neurology, University of Iowa Carver College of Medicine, 200 Hawkins Drive, Iowa City, IA 52242, United States. Electronic address: katherine-mathews@uiowa.edu.
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Źródło:
Neuromuscular disorders : NMD [Neuromuscul Disord] 2023 Jun; Vol. 33 (6), pp. 523-530. Date of Electronic Publication: 2023 May 19.
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms:
Muscular Dystrophies, Limb-Girdle*/complications
Adult ; Humans ; Pain/etiology ; Fatigue/etiology ; Pentosyltransferases
Czasopismo naukowe
Tytuł:
A De Novo Sequence Variant in Barrier-to-Autointegration Factor Is Associated with Dominant Motor Neuronopathy.
Autorzy:
Marcelot A; Institute for Integrative Biology of the Cell (I2BC), CEA, CNRS, Université Paris-Saclay, 91198 Gif-sur-Yvette, France.; Expression Génétique Microbienne, UMR 8261, CNRS, Institut de Biologie Physico-Chimique (IBPC), Université Paris Cité, 75005 Paris, France.
Rodriguez-Tirado F; Department of Biochemistry and Molecular Biology, Carver College of Medicine, University of Iowa, Iowa City, IA 52242, USA.
Cuniasse P; Institute for Integrative Biology of the Cell (I2BC), CEA, CNRS, Université Paris-Saclay, 91198 Gif-sur-Yvette, France.
Joiner ML; Department of Biochemistry and Molecular Biology, Carver College of Medicine, University of Iowa, Iowa City, IA 52242, USA.
Miron S; Institute for Integrative Biology of the Cell (I2BC), CEA, CNRS, Université Paris-Saclay, 91198 Gif-sur-Yvette, France.
Soshnev AA; Department of Neuroscience, Developmental and Regenerative Biology, The University of Texas at San Antonio, San Antonio, TX 78249, USA.
Fang M; Department of Biochemistry and Molecular Biology, Carver College of Medicine, University of Iowa, Iowa City, IA 52242, USA.
Pufall MA; Department of Biochemistry and Molecular Biology, Carver College of Medicine, University of Iowa, Iowa City, IA 52242, USA.
Mathews KD; Department of Pediatrics and Neurology, Carver College of Medicine, University of Iowa, Iowa City, IA 52242, USA.; Wellstone Muscular Dystrophy Specialized Research Center, Department of Pathology, Carver College of Medicine, University of Iowa, Iowa City, IA 52242, USA.
Moore SA; Wellstone Muscular Dystrophy Specialized Research Center, Department of Pathology, Carver College of Medicine, University of Iowa, Iowa City, IA 52242, USA.
Zinn-Justin S; Institute for Integrative Biology of the Cell (I2BC), CEA, CNRS, Université Paris-Saclay, 91198 Gif-sur-Yvette, France.
Geyer PK; Department of Biochemistry and Molecular Biology, Carver College of Medicine, University of Iowa, Iowa City, IA 52242, USA.
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Źródło:
Cells [Cells] 2023 Mar 09; Vol. 12 (6). Date of Electronic Publication: 2023 Mar 09.
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms:
Nuclear Proteins*/metabolism
Cell Nucleus*/metabolism
Humans ; Chromatin ; DNA-Binding Proteins/metabolism ; Fibrinogen
Czasopismo naukowe
Tytuł:
Double blind trial of a deuterated form of linoleic acid (RT001) in Friedreich ataxia.
Autorzy:
Lynch DR; Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, 19104, USA. .; Departments of Pediatrics and Neurology, The Children's Hospital of Philadelphia, 502F Abramson Research Center, 3615 Civic Center Blvd, Philadelphia, PA, 19104, USA. .
Mathews KD; Departments of Pediatrics and Neurology, University of Iowa Carver College of Medicine, Iowa City, USA.
Perlman S; University of California Los Angeles, Los Angeles, USA.
Zesiewicz T; USF Ataxia Research Center, University of South Florida, James A. Haley Veteran's Hospital, Tampa, FL, USA.
Subramony S; Norman Fixel Center for Neurological Disorders, University of Florida College of Medicine, Gainesville, USA.
Omidvar O; University of California Los Angeles, Los Angeles, USA.
Vogel AP; University of Melbourne, Parkville, Australia.; Redenlab Inc, Melbourne, Australia.
Krtolica A; Retrotope, Los Altos, CA, USA.
Litterman N; Retrotope, Los Altos, CA, USA.
van der Ploeg L; Retrotope, Los Altos, CA, USA.
Heerinckx F; Retrotope, Los Altos, CA, USA.
Milner P; Retrotope, Los Altos, CA, USA.
Midei M; Retrotope, Los Altos, CA, USA.
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Źródło:
Journal of neurology [J Neurol] 2023 Mar; Vol. 270 (3), pp. 1615-1623. Date of Electronic Publication: 2022 Dec 03.
Typ publikacji:
Randomized Controlled Trial; Journal Article
MeSH Terms:
Friedreich Ataxia*/drug therapy
Linoleic Acid*/therapeutic use
Humans ; Linoleic Acids/therapeutic use ; Walking ; Double-Blind Method
Czasopismo naukowe
Tytuł:
Efficacy of Omaveloxolone in Friedreich's Ataxia: Delayed-Start Analysis of the MOXIe Extension.
Autorzy:
Lynch DR; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Chin MP; Reata Pharmaceuticals, Dallas, Texas, USA.
Boesch S; Department of Neurology, Medical University Innsbruck, Innsbruck, Austria.
Delatycki MB; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Victoria, Australia.
Giunti P; University College London Hospital, London, United Kingdom.
Goldsberry A; Reata Pharmaceuticals, Dallas, Texas, USA.
Hoyle JC; Department of Neurology, Ohio State University College of Medicine, Columbus, Ohio, USA.
Mariotti C; IRCCS-Istituto Neurologico Carlo Besta, Milan, Italy.
Mathews KD; Department of Pediatrics, University of Iowa Carver College of Medicine, Iowa City, Iowa, USA.
Nachbauer W; Department of Neurology, Medical University Innsbruck, Innsbruck, Austria.
O'Grady M; Reata Pharmaceuticals, Dallas, Texas, USA.
Perlman S; Department of Neurology, University of California Los Angeles, Los Angeles, California, USA.
Subramony SH; Department of Neurology, McKnight Brain Institute, University of Florida Health System, Gainesville, Florida, USA.
Wilmot G; Department of Neurology, Emory University School of Medicine, Atlanta, Georgia, USA.
Zesiewicz T; Department of Neurology, University of South Florida Ataxia Research Center, Tampa, Florida, USA.
Meyer CJ; Reata Pharmaceuticals, Dallas, Texas, USA.
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Źródło:
Movement disorders : official journal of the Movement Disorder Society [Mov Disord] 2023 Feb; Vol. 38 (2), pp. 313-320. Date of Electronic Publication: 2022 Nov 29.
Typ publikacji:
Randomized Controlled Trial; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Friedreich Ataxia*/drug therapy
Triterpenes*/therapeutic use
Humans ; Double-Blind Method ; Disease Progression
Czasopismo naukowe
Tytuł:
Electroretinogram abnormalities in FKRP-related limb-girdle muscular dystrophy (LGMDR9).
Autorzy:
Hagedorn JL; University of Iowa Carver College of Medicine, Iowa City, USA.; Department of Ophthalmology and Visual Sciences, University of Iowa, Iowa City, IA, USA.
Dunn TM; Department of Ophthalmology and Visual Sciences, University of Iowa, Iowa City, IA, USA.; Department of Genetics, The University of Alabama at Birmingham, Birmingham, AL, USA.
Bhattarai S; Department of Ophthalmology and Visual Sciences, University of Iowa, Iowa City, IA, USA.
Stephan C; Stead Department of Pediatrics, University of Iowa, Iowa City, IA, USA.
Mathews KD; Stead Department of Pediatrics, University of Iowa, Iowa City, IA, USA.; Department of Neurology, University of Iowa, Iowa City, IA, USA.
Pfeifer W; Department of Ophthalmology and Visual Sciences, University of Iowa, Iowa City, IA, USA. .
Drack AV; University of Iowa Carver College of Medicine, Iowa City, USA. .; Department of Ophthalmology and Visual Sciences, University of Iowa, Iowa City, IA, USA. .
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Źródło:
Documenta ophthalmologica. Advances in ophthalmology [Doc Ophthalmol] 2023 Feb; Vol. 146 (1), pp. 7-16. Date of Electronic Publication: 2022 Nov 18.
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms:
Electroretinography*
Muscular Dystrophies, Limb-Girdle*/diagnosis
Muscular Dystrophies, Limb-Girdle*/genetics
Muscular Dystrophies, Limb-Girdle*/epidemiology
Adult ; Child ; Animals ; Mice ; Humans ; Mutation ; Phenotype ; Pentosyltransferases/genetics
SCR Disease Name:
Muscular Dystrophy, Limb-Girdle, Type 2I
Czasopismo naukowe

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