GM1 gangliosidosis type II: Results of a 10-year prospective study.

Autor: D'Souza P; Office of the Clinical Director, National Human Genome Research Institute, Bethesda, MD; Medical Genetics Branch, National Human Genome Research Institute, Bethesda, MD., Farmer C; Neurodevelopmental and Behavioral Phenotyping Service, National Institute of Mental Health, Bethesda, MD., Johnston JM; Office of the Clinical Director, National Human Genome Research Institute, Bethesda, MD; Medical Genetics Branch, National Human Genome Research Institute, Bethesda, MD., Han ST; Medical Genetics Branch, National Human Genome Research Institute, Bethesda, MD., Adams D; Office of the Clinical Director, National Human Genome Research Institute, Bethesda, MD., Hartman AL; Division of Clinical Research, National Institute of Neurological Disorders and Stroke, Bethesda, MD., Zein W; Ophthalmic Genetics and Visual Function Branch, National Eye Institute, Bethesda, MD., Huryn LA; Ophthalmic Genetics and Visual Function Branch, National Eye Institute, Bethesda, MD., Solomon B; Rehabilitation Medicine Department, Warren C. Magnuson Clinical Research Center, Bethesda, MD., King K; Neurology Branch, National Institute on Deafness and Other Communication Disorders, Bethesda, MD., Jordan CP; Cardiology Department, Inova Children's Hospital, Fairfax, VA., Myles J; Nutrition Department, Warren C. Magnuson Clinical Research Center, Bethesda, MD., Nicoli ER; Office of the Clinical Director, National Human Genome Research Institute, Bethesda, MD; Medical Genetics Branch, National Human Genome Research Institute, Bethesda, MD., Rothermel CE; Office of the Clinical Director, National Human Genome Research Institute, Bethesda, MD; Medical Genetics Branch, National Human Genome Research Institute, Bethesda, MD., Mojica Algarin Y; Office of the Clinical Director, National Human Genome Research Institute, Bethesda, MD; Medical Genetics Branch, National Human Genome Research Institute, Bethesda, MD., Huang R; Office of the Clinical Director, National Human Genome Research Institute, Bethesda, MD; Medical Genetics Branch, National Human Genome Research Institute, Bethesda, MD., Quimby R; Office of the Clinical Director, National Human Genome Research Institute, Bethesda, MD; Medical Genetics Branch, National Human Genome Research Institute, Bethesda, MD., Zainab M; Office of the Clinical Director, National Human Genome Research Institute, Bethesda, MD; Medical Genetics Branch, National Human Genome Research Institute, Bethesda, MD., Bowden S; Office of the Clinical Director, National Human Genome Research Institute, Bethesda, MD; Medical Genetics Branch, National Human Genome Research Institute, Bethesda, MD., Crowell A; Office of the Clinical Director, National Human Genome Research Institute, Bethesda, MD; Medical Genetics Branch, National Human Genome Research Institute, Bethesda, MD., Buckley A; Sleep and Neurodevelopment Service, National Institute of Mental Health, Bethesda, MD., Brewer C; Neurology Branch, National Institute on Deafness and Other Communication Disorders, Bethesda, MD., Regier DS; Genetics and Metabolism, Children's National Hospital, Washington, DC., Brooks BP; Ophthalmic Genetics and Visual Function Branch, National Eye Institute, Bethesda, MD., Acosta MT; Undiagnosed Disease Program, National Human Genome Research Institute, Bethesda, MD., Baker EH; Department of Radiology and Imaging Sciences, National Institutes of Health Clinical Center, Bethesda, MD., Vézina G; Program in Neuroradiology and Program in Radiology, Children's National Hospital, Washington, DC; Radiology and Pediatrics, The George Washington University School of Medicine and Health Sciences, Washington, DC., Thurm A; Neurodevelopmental and Behavioral Phenotyping Service, National Institute of Mental Health, Bethesda, MD., Tifft CJ; Office of the Clinical Director, National Human Genome Research Institute, Bethesda, MD; Medical Genetics Branch, National Human Genome Research Institute, Bethesda, MD. Electronic address: cynthia.tifft@nih.gov.

Publikováno v: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2024 Jul; Vol. 26 (7), pp. 101144. Date of Electronic Publication: 2024 Apr 16.

Anticoagulation and Transjugular Intrahepatic Portosystemic Shunting for Treatment of Portal Vein Thrombosis in Cirrhosis: A Systematic Review and Meta-Analysis.

Autor: Davis JPE; University of Virginia Center for the Study of Hemostasis in Liver Diseases, Division of Gastroenterology and Hepatology, University of Virginia, Charlottesville, VA, USA., Ogurick AG; Department of Internal Medicine, University of Virginia, Charlottesville, VA, USA., Rothermel CE; Department of Internal Medicine, University of Virginia, Charlottesville, VA, USA., Sohn MW; Department of Public Health Sciences, School of Medicine, University of Virginia, Charlottesville, VA, USA., Intagliata NM; University of Virginia Center for the Study of Hemostasis in Liver Diseases, Division of Gastroenterology and Hepatology, University of Virginia, Charlottesville, VA, USA., Northup PG; University of Virginia Center for the Study of Hemostasis in Liver Diseases, Division of Gastroenterology and Hepatology, University of Virginia, Charlottesville, VA, USA.

Publikováno v: Clinical and applied thrombosis/hemostasis : official journal of the International Academy of Clinical and Applied Thrombosis/Hemostasis [Clin Appl Thromb Hemost] 2019 Jan-Dec; Vol. 25, pp. 1076029619888026.

GLB1- Related Disorders

Autor: Regier DS; Medical Director, Rare Disease Institute Children's National Hospital Washington, DC, Tifft CJ; Deputy Clinical Director, National Human Genome Research Institute National Institutes of Health Bethesda, Maryland, Rothermel CE; National Human Genome Research Institute National Institutes of Health Bethesda, Maryland

Publikováno v: 1993.

Skin Conditions and Movement Disorders: Hiding in Plain Sight.

Autor: Kulcsarova, Kristina^1,2 (AUTHOR), Baloghova, Janette^3,4 (AUTHOR), Necpal, Jan⁵ (AUTHOR), Skorvanek, Matej^1,2 (AUTHOR) mskorvanek@gmail.com

Publikováno v: Movement Disorders Clinical Practice. Jul2022, Vol. 9 Issue 5, p566-583. 18p.

Treatment of portal vein thrombosis in cirrhosis is associated with no survival advantage: a retrospective controlled study.

Autor: Cheloff AZ; Department of Medicine, NYU Langone Health, New York, NY, USA., Bonanni LJ; NYU Grossman School of Medicine, New York, NY, USA., Kirschenbaum JD; Tufts University School of Medicine, Boston, MA, USA., Luke N; Department of Medicine, NYU Langone Health, New York, NY, USA., Engelman JL; NYU Grossman School of Medicine, New York, NY, USA., Ross JL; Department of Medicine, NYU Langone Health, New York, NY, USA., Fuligni G; NYU Grossman School of Medicine, New York, NY, USA., Northup PG; Division of Gastroenterology and Hepatology, NYU Langone Health Transplant Institute, New York, NY, USA. Patrick.Northup@nyulangone.org.

Publikováno v: Hepatology international [Hepatol Int] 2024 Oct 01. Date of Electronic Publication: 2024 Oct 01.