Tay-Sachs Disease. [elektronicky zdroj]

Autor: Freedman, Jeri

Externí odkaz: Kolekce e-knih KNAV (Registrovani uzivatele: plny text online 5 minut, dalsi pristup na vyzadani. Registered users: full text online 5 minutes, further access on requests)

GM2 Gangliosidosis (Tay-Sachs Disease), type I, Infantile Form: Clinical Case

Autor: Artem A. Babkin, Vladimir A. Shcherbak, Elena V. Leontieva, Lada A. Kirii

Publikováno v: Вопросы современной педиатрии, Vol 23, Iss 4, Pp 247-251 (2024)

Background. GM2 gangliosidosis (Tay-Sachs disease, variant B, type I) is an orphan disease with autosomal recessive inheritance. It develops due to gangliosides accumulation in tissues and organs. The description of clinical case of GM2 gangliosidosi

Externí odkaz: https://doaj.org/article/73097d122f544487adf1ad3417b0a8dd

Quantitative brain morphometry identifies cerebellar, cortical, and subcortical gray and white matter atrophy in late-onset Tay-Sachs disease.

Autor: Májovská J; Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital Prague, Prague, Czech Republic., Nestrašil I; Division of Clinical Behavioral Neuroscience, Department of Pediatrics, Medical School, University of Minnesota, Minneapolis, Minnesota, USA., Ahmed A; Advanced Therapies Program, Division of Genetics and Metabolism, Department of Pediatrics, Medical School, University of Minnesota, Minneapolis, Minnesota, USA., Bondy MT; Division of Clinical Behavioral Neuroscience, Department of Pediatrics, Medical School, University of Minnesota, Minneapolis, Minnesota, USA., Klempíř J; Department of Neurology and Center of Clinical Neuroscience, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic., Jahnová H; Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital Prague, Prague, Czech Republic., Schneider SA; Department of Neurology, LMU University Hospital, LMU Munich, Munich, Germany., Horáková D; Department of Neurology and Center of Clinical Neuroscience, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic., Krásenský J; Department of Radiology, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic., Ješina P; Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital Prague, Prague, Czech Republic., Vaneckova M; Department of Radiology, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic., Nascene DR; Department of Neuroradiology, Medical School, University of Minnesota, Minneapolis, Minnesota, USA., Whitley CB; Advanced Therapies Program, Division of Genetics and Metabolism, Department of Pediatrics, Medical School, University of Minnesota, Minneapolis, Minnesota, USA.; Gene Therapy and Diagnostic Laboratory, Department of Pediatrics, Medical School, University of Minnesota, Minneapolis, Minnesota, USA.; Department of Experimental and Clinical Pharmacology, University of Minnesota, College of Pharmacy, Minneapolis, Minnesota, USA., Jarnes JR; Advanced Therapies Program, Division of Genetics and Metabolism, Department of Pediatrics, Medical School, University of Minnesota, Minneapolis, Minnesota, USA.; Department of Experimental and Clinical Pharmacology, University of Minnesota, College of Pharmacy, Minneapolis, Minnesota, USA., Magner M; Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital Prague, Prague, Czech Republic., Dušek P; Department of Neurology and Center of Clinical Neuroscience, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.; Department of Radiology, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.

Publikováno v: Journal of inherited metabolic disease [J Inherit Metab Dis] 2024 Mar; Vol. 47 (2), pp. 327-339. Date of Electronic Publication: 2023 Dec 19.

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Late-onset Tay-Sachs disease presenting with a neuromuscular phenotype-a case series.

Autor: Fullam S; Department of Neurology, Tallaght University Hospital, Dublin, Ireland., Togher Z; Department of Neurology, Tallaght University Hospital, Dublin, Ireland., Power A; Department of Neurology, Cork University Hospital, Cork, Ireland., Kennelly L; Department of Neurology, St Vincent's University Hospital, Dublin, Ireland., McHugh JC; Department of Clinical Neurophysiology, Tallaght University Hospital, Dublin, Ireland., O'Dowd S; Department of Neurology, Tallaght University Hospital, Dublin, Ireland.; Academic Unit of Neurology, Trinity College Dublin, Dublin, Ireland., Tubridy N; Department of Neurology, St Vincent's University Hospital, Dublin, Ireland., Hardiman O; Department of Neurology, Beaumont Hospital, Dublin, Ireland., Costigan D; Department of Clinical Neurophysiology, Mater Misericordiae University Hospital, Dublin, Ireland., Ryan A; Department of Neurology, Cork University Hospital, Cork, Ireland., Lefter S; Department of Neurology, Beaumont Hospital, Dublin, Ireland., Connolly S; Department of Clinical Neurophysiology, St Vincent's University Hospital, Dublin, Ireland., Murphy SM; Department of Neurology, Tallaght University Hospital, Dublin, Ireland.; Academic Unit of Neurology, Trinity College Dublin, Dublin, Ireland.

Publikováno v: European journal of neurology [Eur J Neurol] 2024 Jan; Vol. 31 (1), pp. e16069. Date of Electronic Publication: 2023 Sep 27.