المؤلفون: Šapina M; University Hospital Center Osijek, Osijek, Croatia.; Medical Faculty Osijek, Osijek, Croatia.; Faculty of Dental Medicine and Health Osijek, Osijek, Croatia., Olujic B; University Hospital Center Osijek, Osijek, Croatia.; Medical Faculty Osijek, Osijek, Croatia., Nađ T; University Hospital Center Osijek, Osijek, Croatia.; Medical Faculty Osijek, Osijek, Croatia., Vinkovic H; University Hospital Center Osijek, Osijek, Croatia.; Medical Faculty Osijek, Osijek, Croatia., Dupan ZK; University Hospital Center Osijek, Osijek, Croatia.; Medical Faculty Osijek, Osijek, Croatia., Hamidović N; University Hospital Center Osijek, Osijek, Croatia., Damašek M; University Hospital Center Osijek, Osijek, Croatia.; Medical Faculty Osijek, Osijek, Croatia., Milas K; University Hospital Center Osijek, Osijek, Croatia., Zubčić Ž; University Hospital Center Osijek, Osijek, Croatia.; Medical Faculty Osijek, Osijek, Croatia., Erić I; University Hospital Center Osijek, Osijek, Croatia.; Medical Faculty Osijek, Osijek, Croatia.

المصدر: Pediatric pulmonology [Pediatr Pulmonol] 2024 Jun; Vol. 59 (6), pp. 1786-1788. Date of Electronic Publication: 2024 Mar 07.

نوع المنشور: Case Reports; Letter; Journal Article

بيانات الدورية: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 8510590 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1099-0496 (Electronic) Linking ISSN: 10990496 NLM ISO Abbreviation: Pediatr Pulmonol Subsets: MEDLINE

مواضيع طبية MeSH: Bronchoscopy*/methods , Pulmonary Atelectasis*/diagnostic imaging , Pulmonary Atelectasis*/etiology , Tay-Sachs Disease*/diagnostic imaging , Tay-Sachs Disease*/complications, Humans ; Insufflation/methods ; Ultrasonography, Interventional/methods ; Male ; Female

المؤلفون: Basirli H; İzmir Institute of Technology, Department of Molecular Biology and Genetics, İzmir, Turkey., Can M; İzmir Institute of Technology, Department of Molecular Biology and Genetics, İzmir, Turkey., Sengul T; İzmir Institute of Technology, Department of Molecular Biology and Genetics, İzmir, Turkey., Seyrantepe V; İzmir Institute of Technology, Department of Molecular Biology and Genetics, İzmir, Turkey; İzmir Institute of Technology, IYTEDEHAM, İzmir, Turkey. Electronic address: volkanseyrantepe@iyte.edu.tr.

المصدر: Molecular genetics and metabolism [Mol Genet Metab] 2024 Mar; Vol. 141 (3), pp. 108140. Date of Electronic Publication: 2024 Jan 11.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Academic Press Country of Publication: United States NLM ID: 9805456 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1096-7206 (Electronic) Linking ISSN: 10967192 NLM ISO Abbreviation: Mol Genet Metab Subsets: MEDLINE

مواضيع طبية MeSH: Tay-Sachs Disease*/drug therapy , Tay-Sachs Disease*/genetics, Humans ; Mice ; Animals ; Lithium/pharmacology ; Lithium/therapeutic use ; G(M2) Ganglioside ; Autophagy ; Lithium Compounds/therapeutic use ; beta-N-Acetylhexosaminidases/genetics ; beta-N-Acetylhexosaminidases/metabolism ; beta-N-Acetylhexosaminidases/therapeutic use

المؤلفون: 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.

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

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

بيانات الدورية: 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

مواضيع طبية MeSH: Tay-Sachs Disease*/pathology , White Matter*/diagnostic imaging, Humans ; Retrospective Studies ; Magnetic Resonance Imaging ; Brain/pathology ; Atrophy/pathology

المؤلفون: 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.

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

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Wiley Country of Publication: England NLM ID: 9506311 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1468-1331 (Electronic) Linking ISSN: 13515101 NLM ISO Abbreviation: Eur J Neurol Subsets: MEDLINE

مواضيع طبية MeSH: Tay-Sachs Disease*/diagnosis , Tay-Sachs Disease*/genetics , Tay-Sachs Disease*/psychology , Mental Disorders*, Humans ; Phenotype ; Cerebellum

المؤلفون: Raha S; Department of Neurological Sciences, Rush University Medical Center, Chicago, IL 60612, USA., Dutta D; Department of Neurological Sciences, Rush University Medical Center, Chicago, IL 60612, USA., Paidi RK; Department of Neurological Sciences, Rush University Medical Center, Chicago, IL 60612, USA., Pahan K; Department of Neurological Sciences, Rush University Medical Center, Chicago, IL 60612, USA.; Division of Research and Development, Jesse Brown Veterans Affairs Medical Center, 820 South Damen Avenue, Chicago, IL 60612, USA.

المصدر: Cells [Cells] 2023 Dec 08; Vol. 12 (24). Date of Electronic Publication: 2023 Dec 08.

نوع المنشور: Journal Article; Research Support, U.S. Gov't, Non-P.H.S.; Research Support, N.I.H., Extramural

بيانات الدورية: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101600052 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4409 (Electronic) Linking ISSN: 20734409 NLM ISO Abbreviation: Cells Subsets: MEDLINE

مواضيع طبية MeSH: Tay-Sachs Disease*/drug therapy, Humans ; Animals ; Mice ; PPAR alpha/therapeutic use ; Gemfibrozil/pharmacology ; Gemfibrozil/therapeutic use ; beta-N-Acetylhexosaminidases ; Hypolipidemic Agents/therapeutic use ; Glycoconjugates

المؤلفون: Lee T, Velez FG, Galoyan N, Prasad VK, El-Dairi MA

المصدر: Journal of pediatric ophthalmology and strabismus [J Pediatr Ophthalmol Strabismus] 2023 Nov-Dec; Vol. 60 (6), pp. 435-440. Date of Electronic Publication: 2023 Feb 21.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Slack Country of Publication: United States NLM ID: 7901143 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1938-2405 (Electronic) Linking ISSN: 01913913 NLM ISO Abbreviation: J Pediatr Ophthalmol Strabismus Subsets: MEDLINE

مواضيع طبية MeSH: Tay-Sachs Disease* , Niemann-Pick Diseases*, Humans ; Child ; Infant ; Tomography, Optical Coherence ; Evoked Potentials, Visual ; Prognosis

المؤلفون: Vyas M; Centre for Neuroscience Studies, Queen's University, Kingston, ON K7L 3N6, Canada., Deschenes NM; Centre for Neuroscience Studies, Queen's University, Kingston, ON K7L 3N6, Canada., Osmon KJL; Centre for Neuroscience Studies, Queen's University, Kingston, ON K7L 3N6, Canada., Chen Z; Department of Biomedical and Molecular Sciences, Queen's University, Kingston, ON K7L 3N6, Canada., Ahmad I; Centre for Neuroscience Studies, Queen's University, Kingston, ON K7L 3N6, Canada., Kot S; Department of Biomedical and Molecular Sciences, Queen's University, Kingston, ON K7L 3N6, Canada., Thompson P; Department of Pediatrics, Queen's University, Kingston, ON K7L 2V7, Canada., Richmond C; Department of Biomedical and Molecular Sciences, Queen's University, Kingston, ON K7L 3N6, Canada., Gray SJ; Department of Pediatrics, UT Southwestern Medical Center, Dallas, TX 75390, USA., Walia JS; Centre for Neuroscience Studies, Queen's University, Kingston, ON K7L 3N6, Canada.; Department of Biomedical and Molecular Sciences, Queen's University, Kingston, ON K7L 3N6, Canada.; Department of Pediatrics, Queen's University, Kingston, ON K7L 2V7, Canada.

المصدر: International journal of molecular sciences [Int J Mol Sci] 2023 Sep 27; Vol. 24 (19). Date of Electronic Publication: 2023 Sep 27.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067 (Electronic) Linking ISSN: 14220067 NLM ISO Abbreviation: Int J Mol Sci Subsets: MEDLINE

مواضيع طبية MeSH: Tay-Sachs Disease*/therapy , Gangliosidoses, GM2*/genetics , Gangliosidoses, GM2*/therapy, Humans ; Animals ; Mice ; Dependovirus/genetics ; Serogroup ; G(M2) Activator Protein/genetics ; Genetic Therapy

المؤلفون: Han ST; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA., Hirt A; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA., Nicoli ER; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA., Kono M; Genetics and Biochemistry Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, Maryland, USA., Toro C; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, Maryland, USA., Proia RL; Genetics and Biochemistry Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, Maryland, USA., Tifft CJ; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.

المصدر: Journal of inherited metabolic disease [J Inherit Metab Dis] 2023 Jul; Vol. 46 (4), pp. 687-694. Date of Electronic Publication: 2023 Feb 05.

نوع المنشور: Journal Article; Research Support, N.I.H., Intramural

بيانات الدورية: 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

مواضيع طبية MeSH: Tay-Sachs Disease*/genetics , Tay-Sachs Disease*/metabolism , Tay-Sachs Disease*/pathology , Gangliosidoses, GM2*/genetics , Gangliosidoses, GM2*/metabolism, Humans ; Brain/pathology ; Gene Expression

SCR Disease Name: Tay-Sachs Disease, Juvenile

المؤلفون: Sicchieri JMF; Department of Internal Medicine, University Hospital, School of Medicine, University of São Paulo, São Paulo, Brazil. Electronic address: jmfsicchieri@hcrp.usp.br., Gracia BMC; School of Medicine, University of São Paulo, São Paulo, Brazil., Schiavoni IL; Department of Internal Medicine, University Hospital, School of Medicine, University of São Paulo, São Paulo, Brazil., Pagano AP; Department of Health Sciences, School of Medicine of Ribeirão Preto, University of São Paulo, São Paulo, Brazil; Department of Agricultural, Food, and Nutritional Science, Faculty of Agricultural, Life, and Environmental Sciences, University of Alberta, Edmonton, Alberta, Canada., Navarro AM; Department of Health Sciences, School of Medicine of Ribeirão Preto, University of São Paulo, São Paulo, Brazil.

المصدر: Journal of the Academy of Nutrition and Dietetics [J Acad Nutr Diet] 2023 Jun; Vol. 123 (6), pp. 871-875. Date of Electronic Publication: 2022 Dec 19.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 101573920 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2212-2672 (Print) Linking ISSN: 22122672 NLM ISO Abbreviation: J Acad Nutr Diet Subsets: MEDLINE

مواضيع طبية MeSH: Tay-Sachs Disease*, Humans ; Nutrition Assessment

المؤلفون: Sengul T; İzmir Institute of Technology, Department of Molecular Biology and Genetics, İzmir, Turkey., Can M; İzmir Institute of Technology, Department of Molecular Biology and Genetics, İzmir, Turkey., Ateş N; İzmir Institute of Technology, Department of Molecular Biology and Genetics, İzmir, Turkey., Seyrantepe V; İzmir Institute of Technology, Department of Molecular Biology and Genetics, İzmir, Turkey.; İzmir Institute of Technology, IYTEDEHAM, İzmir, Turkey.

المصدر: PloS one [PLoS One] 2023 Mar 16; Vol. 18 (3), pp. e0280650. Date of Electronic Publication: 2023 Mar 16 (Print Publication: 2023).

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Public Library of Science Country of Publication: United States NLM ID: 101285081 Publication Model: eCollection Cited Medium: Internet ISSN: 1932-6203 (Electronic) Linking ISSN: 19326203 NLM ISO Abbreviation: PLoS One Subsets: MEDLINE

مواضيع طبية MeSH: Autophagy*/physiology , Tay-Sachs Disease*/metabolism , Tay-Sachs Disease*/pathology, Animals ; Mice ; beta-N-Acetylhexosaminidases/genetics ; beta-N-Acetylhexosaminidases/metabolism ; Brain/metabolism ; Brain/pathology ; G(M2) Ganglioside/therapeutic use ; Hexosaminidase A/metabolism ; Disease Models, Animal