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Wyszukujesz frazę ""LYSOSOMAL storage diseases"" wg kryterium: Temat


Tytuł :
Nutrition in adult patients with selected lysosomal storage diseases.
Autorzy :
Carubbi F; U.O.C. Medicina metabolica AOU Modena, Metabolic Medicine Unit, Modena University Hospital, Modena, Italy. Electronic address: .
Barbato A; Department of Clinical Medicine and Surgery, 'Federico II' University Hospital, Naples, Italy.
Burlina AB; U.O.C. Malattie Metaboliche Ereditarie, Major Operational Unit of Hereditary Metabolic Diseases, Azienda Ospedaliera di Padova, Padua, Italy.
Francini F; U.O. Nutrizione Clinica, Department of Medicine, Azienda Ospedaliera di Padova, Padua, Italy.
Mignani R; U.O. di Nefrologia e Dialisi dell'Ospedale Infermi di Rimini, Nephrology Operational Unit of the Infermi Hospital in Rimini, Rimini, Italy.
Pegoraro E; Department of Neuroscience, University of Padova, Padua, Italy.
Landini L; S.S.D. Dietetics and Clinical Nutrition ASL 4 Chiavarese Liguria - Sestri Levante Hospital, Italy.
De Danieli G; Sanofi Italia, Milan, Italy.
Bruni S; Sanofi Italia, Milan, Italy.
Strazzullo P; Department of Clinical Medicine and Surgery, 'Federico II' University Hospital, Naples, Italy.
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Corporate Authors :
Italian Society of Human Nutrition Working Group on Nutrition in Lysosomal Storage Diseases
Źródło :
Nutrition, metabolism, and cardiovascular diseases : NMCD [Nutr Metab Cardiovasc Dis] 2021 Mar 10; Vol. 31 (3), pp. 733-744. Date of Electronic Publication: 2020 Dec 09.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't; Review
MeSH Terms :
Energy Metabolism*
Nutritional Status*
Nutritional Support*
Lysosomal Storage Diseases/*diet therapy
Malnutrition/*prevention & control
Obesity/*prevention & control
Humans ; Lysosomal Storage Diseases/diagnosis ; Lysosomal Storage Diseases/epidemiology ; Lysosomal Storage Diseases/physiopathology ; Malnutrition/diagnosis ; Malnutrition/epidemiology ; Malnutrition/physiopathology ; Obesity/diagnosis ; Obesity/epidemiology ; Obesity/physiopathology ; Treatment Outcome
Czasopismo naukowe
Tytuł :
Analysis of Live Single Cells by Confocal Microscopy and High-Resolution Mass Spectrometry to Study Drug Uptake, Metabolism, and Drug-Induced Phospholipidosis.
Autorzy :
Pedro L; Novartis Institutes for BioMedical Research, Emeryville, California 94608, United States.
Rudewicz PJ; Novartis Institutes for BioMedical Research, Emeryville, California 94608, United States.
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Źródło :
Analytical chemistry [Anal Chem] 2020 Dec 15; Vol. 92 (24), pp. 16005-16015. Date of Electronic Publication: 2020 Dec 06.
Typ publikacji :
Journal Article
MeSH Terms :
Mass Spectrometry*
Amiodarone/*adverse effects
Amiodarone/*metabolism
Lysosomal Storage Diseases/*diagnostic imaging
Lysosomal Storage Diseases/*pathology
Microscopy, Confocal/*methods
Single-Cell Analysis/*methods
Amiodarone/analogs & derivatives ; Hep G2 Cells ; Humans ; Lysosomal Storage Diseases/chemically induced
Czasopismo naukowe
Tytuł :
Inherited disorders of lysosomal membrane transporters.
Autorzy :
Huizing M; Human Biochemical Genetics Section, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA. Electronic address: .
Gahl WA; Human Biochemical Genetics Section, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.
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Źródło :
Biochimica et biophysica acta. Biomembranes [Biochim Biophys Acta Biomembr] 2020 Dec 01; Vol. 1862 (12), pp. 183336. Date of Electronic Publication: 2020 May 08.
Typ publikacji :
Journal Article; Research Support, N.I.H., Intramural; Review
MeSH Terms :
Lysosomal Storage Diseases/*pathology
Lysosomes/*metabolism
Membrane Transport Proteins/*metabolism
Amino Acid Transport Systems, Neutral/genetics ; Amino Acid Transport Systems, Neutral/metabolism ; Cystinosis/genetics ; Cystinosis/pathology ; Histiocytosis/genetics ; Histiocytosis/pathology ; Humans ; Lysosomal Storage Diseases/genetics ; Membrane Transport Proteins/genetics ; Nucleoside Transport Proteins/genetics ; Nucleoside Transport Proteins/metabolism ; Organic Anion Transporters/genetics ; Organic Anion Transporters/metabolism ; Sialic Acid Storage Disease/genetics ; Sialic Acid Storage Disease/pathology ; Symporters/genetics ; Symporters/metabolism
SCR Disease Name :
Free sialic acid storage disease
Czasopismo naukowe
Tytuł :
The Lysosome and Nonmotor Symptoms: Linking Parkinson's Disease and Lysosomal Storage Disorders.
Autorzy :
Blumenreich S; Department of Biomolecular Sciences, Weizmann Institute of Science, Rehovot, Israel.
Jenkins BJ; Department of Biomolecular Sciences, Weizmann Institute of Science, Rehovot, Israel.
Barav OB; Department of Biomolecular Sciences, Weizmann Institute of Science, Rehovot, Israel.
Milenkovic I; Department of Neurology, Medical University of Vienna, Vienna, Austria.
Futerman AH; Department of Biomolecular Sciences, Weizmann Institute of Science, Rehovot, Israel.
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Źródło :
Movement disorders : official journal of the Movement Disorder Society [Mov Disord] 2020 Dec; Vol. 35 (12), pp. 2150-2155. Date of Electronic Publication: 2020 Sep 28.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Lysosomal Storage Diseases*/complications
Parkinson Disease*/complications
Humans ; Lysosomes
Czasopismo naukowe
Tytuł :
Lyso-glycosphingolipids: presence and consequences.
Autorzy :
van Eijk M; Leiden Institute of Chemistry, Leiden University, Einsteinweg 55, 2300 RA, Leiden, The Netherlands.
Ferraz MJ; Leiden Institute of Chemistry, Leiden University, Einsteinweg 55, 2300 RA, Leiden, The Netherlands.
Boot RG; Leiden Institute of Chemistry, Leiden University, Einsteinweg 55, 2300 RA, Leiden, The Netherlands.
Aerts JMFG; Leiden Institute of Chemistry, Leiden University, Einsteinweg 55, 2300 RA, Leiden, The Netherlands.
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Źródło :
Essays in biochemistry [Essays Biochem] 2020 Sep 23; Vol. 64 (3), pp. 565-578.
Typ publikacji :
Journal Article; Review
MeSH Terms :
Enzyme Replacement Therapy/*methods
Genetic Therapy/*methods
Glycosphingolipids/*biosynthesis
Lysosomal Storage Diseases/*drug therapy
Lysosomal Storage Diseases/*metabolism
Lysosomes/*metabolism
Molecular Targeted Therapy/*methods
Acid Ceramidase/metabolism ; Animals ; Humans ; Immunity ; Lysosomal Storage Diseases/immunology
Czasopismo naukowe
Tytuł :
Assessing Lysosomal Disorders in the NGS Era: Identification of Novel Rare Variants.
Autorzy :
Encarnação M; Research and Development Unit, Human Genetics Department, National Institute of Health Doutor Ricardo Jorge, 4000-055 Porto, Portugal.; Newborn Screening, Metabolism & Genetics Unit, Human Genetics Department, National Institute of Health Doutor Ricardo Jorge, 4000-055 Porto, Portugal.; Center for the Study of Animal Science, CECA-ICETA, University of Porto, 4051-401 Porto, Portugal.
Coutinho MF; Research and Development Unit, Human Genetics Department, National Institute of Health Doutor Ricardo Jorge, 4000-055 Porto, Portugal.; Center for the Study of Animal Science, CECA-ICETA, University of Porto, 4051-401 Porto, Portugal.
Silva L; Research and Development Unit, Human Genetics Department, National Institute of Health Doutor Ricardo Jorge, 4000-055 Porto, Portugal.; Newborn Screening, Metabolism & Genetics Unit, Human Genetics Department, National Institute of Health Doutor Ricardo Jorge, 4000-055 Porto, Portugal.
Ribeiro D; Research and Development Unit, Human Genetics Department, National Institute of Health Doutor Ricardo Jorge, 4000-055 Porto, Portugal.
Ouesleti S; Biochemical Service, CHU Farhat Hached, 4000 Sousse, Tunisia.
Campos T; Reference Center for Inherited Metabolic Disorders, University Hospital Centre S. João, 4202-451 Porto, Portugal.
Santos H; Department of Pediatrics, Hospital Centre, EPE, 4434-502 V.N. Gaia, Portugal.
Martins E; Oporto Hospital Centre, University of Porto, 4099-001 Porto, Portugal.
Cardoso MT; Reference Center for Inherited Metabolic Disorders, University Hospital Centre S. João, 4202-451 Porto, Portugal.
Vilarinho L; Research and Development Unit, Human Genetics Department, National Institute of Health Doutor Ricardo Jorge, 4000-055 Porto, Portugal.; Newborn Screening, Metabolism & Genetics Unit, Human Genetics Department, National Institute of Health Doutor Ricardo Jorge, 4000-055 Porto, Portugal.; Center for the Study of Animal Science, CECA-ICETA, University of Porto, 4051-401 Porto, Portugal.
Alves S; Research and Development Unit, Human Genetics Department, National Institute of Health Doutor Ricardo Jorge, 4000-055 Porto, Portugal.; Center for the Study of Animal Science, CECA-ICETA, University of Porto, 4051-401 Porto, Portugal.
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Źródło :
International journal of molecular sciences [Int J Mol Sci] 2020 Sep 01; Vol. 21 (17). Date of Electronic Publication: 2020 Sep 01.
Typ publikacji :
Journal Article
MeSH Terms :
Genetic Markers*
Genetic Predisposition to Disease*
Genetic Testing*
Genetic Variation*
High-Throughput Nucleotide Sequencing/*methods
Lysosomal Storage Diseases/*diagnosis
Lysosomes/*pathology
Global Health ; Humans ; Lysosomal Storage Diseases/genetics ; Lysosomes/genetics ; Sequence Analysis, DNA
Czasopismo naukowe
Tytuł :
Lysosomal Storage Disease-Associated Neuropathy: Targeting Stable Nucleic Acid Lipid Particle (SNALP)-Formulated siRNAs to the Brain as a Therapeutic Approach.
Autorzy :
Coutinho MF; Research and Development Unit, Department of Human Genetics, National Institute of Health Doutor Ricardo Jorge (INSA I.P), Rua Alexandre Herculano, 321, 4000-055 Porto, Portugal.; Center for the Study of Animal Science, CECA-ICETA, University of Porto, Praça Gomes Teixeira, Apartado 55142, 4051-401 Porto, Portugal.
Santos JI; Research and Development Unit, Department of Human Genetics, National Institute of Health Doutor Ricardo Jorge (INSA I.P), Rua Alexandre Herculano, 321, 4000-055 Porto, Portugal.; Biology Department, Faculty of Sciences, University of Porto, Rua do Campo Alegre, 4169-007 Porto, Portugal.
S Mendonça L; CNC-Center for Neuroscience and Cell Biology, University of Coimbra, 3004-504 Coimbra, Portugal.; CIBB-Center for Innovative Biomedicine and Biotechnology, University of Coimbra, 3004-504 Coimbra, Portugal.
Matos L; Research and Development Unit, Department of Human Genetics, National Institute of Health Doutor Ricardo Jorge (INSA I.P), Rua Alexandre Herculano, 321, 4000-055 Porto, Portugal.; Center for the Study of Animal Science, CECA-ICETA, University of Porto, Praça Gomes Teixeira, Apartado 55142, 4051-401 Porto, Portugal.
Prata MJ; Biology Department, Faculty of Sciences, University of Porto, Rua do Campo Alegre, 4169-007 Porto, Portugal.; i3S-Institute of Research and Innovation in Health/IPATIMUP-Institute of Molecular Pathology and Immunology of the University of Porto, Rua Alfredo Allen, 208 4200-135 Porto, Portugal.
S Jurado A; University of Coimbra, CNC-Center for Neuroscience and Cell Biology, Department of Life Sciences, Calçada Martim de Freitas, 3000-456 Coimbra, Portugal.
Pedroso de Lima MC; CNC-Center for Neuroscience and Cell Biology, University of Coimbra, 3004-504 Coimbra, Portugal.
Alves S; Research and Development Unit, Department of Human Genetics, National Institute of Health Doutor Ricardo Jorge (INSA I.P), Rua Alexandre Herculano, 321, 4000-055 Porto, Portugal.; Center for the Study of Animal Science, CECA-ICETA, University of Porto, Praça Gomes Teixeira, Apartado 55142, 4051-401 Porto, Portugal.
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Źródło :
International journal of molecular sciences [Int J Mol Sci] 2020 Aug 10; Vol. 21 (16). Date of Electronic Publication: 2020 Aug 10.
Typ publikacji :
Journal Article; Review
MeSH Terms :
Central Nervous System Diseases/*complications
Central Nervous System Diseases/*drug therapy
Drug Delivery Systems/*methods
Liposomes/*chemistry
Lysosomal Storage Diseases/*complications
Lysosomal Storage Diseases/*drug therapy
Nanoparticles/*chemistry
RNA, Small Interfering/*administration & dosage
Animals ; Brain/metabolism ; Central Nervous System Diseases/genetics ; Central Nervous System Diseases/metabolism ; Drug Stability ; Humans ; Lysosomal Storage Diseases/genetics ; Lysosomal Storage Diseases/metabolism ; RNA Interference ; RNA, Double-Stranded/metabolism ; RNA, Small Interfering/metabolism
Czasopismo naukowe
Tytuł :
Different Sensitivity of Macrophages to Phospholipidosis Induction by Amphiphilic Cationic Drugs.
Autorzy :
Öhlinger K; Center for Medical Research, Medical University of Graz, Stiftingtalstr. 24, 8010 Graz, Austria.
Absenger-Novak M; Center for Medical Research, Medical University of Graz, Stiftingtalstr. 24, 8010 Graz, Austria.
Meindl C; Center for Medical Research, Medical University of Graz, Stiftingtalstr. 24, 8010 Graz, Austria.
Ober J; Center for Medical Research, Medical University of Graz, Stiftingtalstr. 24, 8010 Graz, Austria.
Fröhlich E; Center for Medical Research, Medical University of Graz, Stiftingtalstr. 24, 8010 Graz, Austria.; Research Center Pharmaceutical Engineering GmbH, Inffeldgasse 13, 8010 Graz, Austria.
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Źródło :
International journal of molecular sciences [Int J Mol Sci] 2020 Nov 09; Vol. 21 (21). Date of Electronic Publication: 2020 Nov 09.
Typ publikacji :
Journal Article
MeSH Terms :
Amiodarone/*adverse effects
Cations/*adverse effects
Chloroquine/*adverse effects
Lysosomal Storage Diseases/*chemically induced
Macrophages/*drug effects
Macrophages/*metabolism
Phospholipids/*metabolism
Animals ; Cell Line ; Humans ; Lysosomal Storage Diseases/metabolism ; Mice ; Monocytes/drug effects ; RAW 264.7 Cells ; THP-1 Cells
Czasopismo naukowe
Tytuł :
Treatable lysosomal storage diseases in the advent of disease-specific therapy.
Autorzy :
Peters H; Department of Metabolic Medicine, Royal Children's Hospital, Melbourne, Victoria, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.
Ellaway C; Genetic Metabolic Disorders Service, Sydney Children's Hospital Network, Sydney, New South Wales, Australia.; The Disciplines of Child and Adolescent Health and Genomic Medicine, University of Sydney, Sydney, New South Wales, Australia.
Nicholls K; Department of Nephrology, Royal Melbourne Hospital, Melbourne, Victoria, Australia.; Department of Medicine, University of Melbourne, Melbourne, Victoria, Australia.
Reardon K; Department of Neurology, St Vincent's Hospital, Melbourne, Victoria, Australia.
Szer J; Clinical Haematology, The Royal Melbourne Hospital, Melbourne, Victoria, Australia.; Clinical Haematology, Peter MacCallum Cancer Centre, Melbourne, Victoria, Australia.; Department of Medicine, University of Melbourne, Melbourne, Victoria, Australia.
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Źródło :
Internal medicine journal [Intern Med J] 2020 Nov; Vol. 50 Suppl 4, pp. 5-27.
Typ publikacji :
Journal Article
MeSH Terms :
Enzyme Replacement Therapy*
Fabry Disease/*therapy
Gaucher Disease/*therapy
Glycogen Storage Disease Type II/*therapy
Lysosomal Storage Diseases/*therapy
Mucopolysaccharidosis I/*therapy
Mucopolysaccharidosis II/*therapy
Adult ; Child, Preschool ; Fabry Disease/diagnosis ; Female ; Gaucher Disease/diagnosis ; Glycogen Storage Disease Type II/diagnosis ; Hematopoietic Stem Cell Transplantation ; Humans ; Lysosomal Storage Diseases/drug therapy ; Male ; Mucopolysaccharidosis I/diagnosis ; Mucopolysaccharidosis II/diagnosis
Czasopismo naukowe
Tytuł :
Loss-of-Function Variants in HOPS Complex Genes VPS16 and VPS41 Cause Early Onset Dystonia Associated with Lysosomal Abnormalities.
Autorzy :
Steel D; Department of Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London, UK.; Department of Neurology, Great Ormond Street Hospital, London, UK.
Zech M; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany.; Institute of Human Genetics, Technical University of Munich, Munich, Germany.
Zhao C; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany.
Barwick KES; Department of Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London, UK.
Burke D; Enzyme Laboratory, Great Ormond Street Hospital for Children, London, UK.
Demailly D; Unités des Pathologies Cérébrales Résistantes, Département de Neurochirurgie, Centre Hospitalier Universitaire, Montpellier, France.
Kumar KR; Department of Neurogenetics, Kolling Institute of Medical Research, University of Sydney and Northern Sydney Local Health District, Sydney, New South Wales, Australia.; Molecular Medicine Laboratory, Concord Repatriation General Hospital, Concord, New South Wales, Australia.; Translational Genomics, Kinghorn Centre for Clinical Genomics, Garvan Institute for Medical Research, Sydney, New South Wales, Australia.; Department of Neurogenetics, University of Sydney and Northern Sydney Local Health District, Sydney, New South Wales, Australia.
Zorzi G; Department of Child Neurology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Nardocci N; Department of Child Neurology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Kaiyrzhanov R; Department of Neuromuscular Diseases, University College London, Queen Square, Institute of Neurology, London, UK.
Wagner M; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany.; Institute of Human Genetics, Technical University of Munich, Munich, Germany.
Iuso A; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany.; Institute of Human Genetics, Technical University of Munich, Munich, Germany.
Berutti R; Institute of Human Genetics, Technical University of Munich, Munich, Germany.
Škorvánek M; Department of Neurology, P. J. Safarik University, Kosice, Slovak Republic.; Department of Neurology, University Hospital of L. Pasteur, Kosice, Slovak Republic.
Necpál J; Department of Neurology, Zvolen Hospital, Zvolen, Slovakia.
Davis R; Department of Neurogenetics, Kolling Institute of Medical Research, University of Sydney and Northern Sydney Local Health District, Sydney, New South Wales, Australia.; Translational Genomics, Kinghorn Centre for Clinical Genomics, Garvan Institute for Medical Research, Sydney, New South Wales, Australia.; Department of Neurogenetics, University of Sydney and Northern Sydney Local Health District, Sydney, New South Wales, Australia.
Wiethoff S; UCL Queen Square Institute of Neurology, London, UK.; Department of Neurodegenerative Disease, Hertie-Institute for Clinical Brain Research and Center for Neurology, University of Tübingen, Tübingen, Germany.
Mankad K; Department of Radiology, Great Ormond Street Hospital for Children, London, UK.
Sudhakar S; Department of Radiology, Great Ormond Street Hospital for Children, London, UK.
Ferrini A; Department of Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London, UK.
Sharma S; Neurology Division, Department of Pediatrics, Lady Hardinge Medical College and Associated Kalawati Saran Children's Hospital, New Delhi, India.
Kamsteeg EJ; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
Tijssen MA; Department of Neurology, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.
Verschuuren C; Expertise Center Movement Disorders Groningen, University Medical Center Groningen, Groningen, The Netherlands.; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.
van Egmond ME; Department of Neurology, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.; Expertise Center Movement Disorders Groningen, University Medical Center Groningen, Groningen, The Netherlands.
Flowers JM; Department of Neurology, St. George's Hospital, London, UK.
McEntagart M; Department of Clinical Genetics, St. George's Hospital, London, UK.
Tucci A; Genomics England, London, UK.
Coubes P; Unités des Pathologies Cérébrales Résistantes, Département de Neurochirurgie, Centre Hospitalier Universitaire, Montpellier, France.
Bustos BI; Ken and Ruth Davee Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL, USA.
Gonzalez-Latapi P; Ken and Ruth Davee Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL, USA.
Tisch S; Department of Neurology, St. Vincent's Hospital, Sydney, Australia.
Darveniza P; Department of Neurology, St. Vincent's Hospital, Sydney, Australia.
Gorman KM; Department of Neurology and Clinical Neurophysiology, Children's Health Ireland at Temple Street, Dublin, Ireland.; UCD School of Medicine and Medical Science, University College Dublin, Dublin, Ireland.
Peall KJ; University of Cardiff, Cardiff, Wales, UK.
Bötzel K; Department of Neurology, Ludwig Maximilian University, Munich, Germany.
Koch JC; Department of Neurology, University Medical Center Göttingen, Göttingen, Germany.
Kmieć T; Department of Neurology and Epileptology, Children's Memorial Health Institute, Warsaw, Poland.
Plecko B; Department of Pediatrics and Adolescent Medicine, Division of General Pediatrics, Medical University of Graz, Graz, Austria.
Boesch S; Department of Neurology, Medical University Innsbruck, Innsbruck, Austria.
Haslinger B; Klinik und Poliklinik für Neurologie, Klinikum rechts der Isar, Technische Universität München, Munich, Germany.
Jech R; Department of Neurology, Charles University, 1st Faculty of Medicine and General University Hospital in Prague, Prague, Czech Republic.
Garavaglia B; Department of Child Neurology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Wood N; UCL Queen Square Institute of Neurology, London, UK.
Houlden H; Department of Neuromuscular Diseases, University College London, Queen Square, Institute of Neurology, London, UK.
Gissen P; Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, London, UK.
Lubbe SJ; Ken and Ruth Davee Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL, USA.
Sue CM; Department of Neurogenetics, Kolling Institute of Medical Research, University of Sydney and Northern Sydney Local Health District, Sydney, New South Wales, Australia.; Translational Genomics, Kinghorn Centre for Clinical Genomics, Garvan Institute for Medical Research, Sydney, New South Wales, Australia.; Department of Neurogenetics, University of Sydney and Northern Sydney Local Health District, Sydney, New South Wales, Australia.; Department of Neurology, Royal North Shore Hospital, Northern Sydney Local Health District, Sydney, New South Wales, Australia.
Cif L; Unités des Pathologies Cérébrales Résistantes, Département de Neurochirurgie, Centre Hospitalier Universitaire, Montpellier, France.
Mencacci NE; Ken and Ruth Davee Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL, USA.
Anderson G; Department of Histopathology, Great Ormond Street Hospital for Children, London, UK.
Kurian MA; Department of Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London, UK.; Department of Neurology, Great Ormond Street Hospital, London, UK.
Winkelmann J; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany.; Institute of Human Genetics, Technical University of Munich, Munich, Germany.; Lehrstuhl für Neurogenetik, Technische Universität München, Munich, Germany.; Munich Cluster for Systems Neurology, Munich, Germany.
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Corporate Authors :
Genomics England Research Consortium
Źródło :
Annals of neurology [Ann Neurol] 2020 Nov; Vol. 88 (5), pp. 867-877. Date of Electronic Publication: 2020 Sep 21.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Dystonia/*genetics
Lysosomal Storage Diseases/*genetics
Vesicular Transport Proteins/*genetics
Adult ; Cost of Illness ; Dystonia/pathology ; Exome/genetics ; Female ; Fibroblasts/pathology ; Genetic Predisposition to Disease/genetics ; Genetic Variation ; Humans ; Lysosomal Storage Diseases/pathology ; Male ; Middle Aged ; Mutation/genetics ; Pedigree
Czasopismo naukowe
Tytuł :
Lysosomal storage disorders affecting the heart: a review.
Autorzy :
Veinot JP; Department of Pathology and Laboratory Medicine, Ottawa Hospital and Faculty of Medicine, University of Ottawa, 451 Smyth Road, Ottawa, Ontario K1H 8M5, Canada. Electronic address: .
Nair V; Department of Pathology and Laboratory Medicine, Ottawa Hospital and Faculty of Medicine, University of Ottawa, 451 Smyth Road, Ottawa, Ontario K1H 8M5, Canada.
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Źródło :
Cardiovascular pathology : the official journal of the Society for Cardiovascular Pathology [Cardiovasc Pathol] 2020 Sep - Oct; Vol. 48, pp. 107217. Date of Electronic Publication: 2020 Mar 04.
Typ publikacji :
Journal Article; Comment
MeSH Terms :
Lysosomal Storage Diseases*
Heart ; Humans ; Lysosomes
Czasopismo naukowe
Tytuł :
Highlights on Genomics Applications for Lysosomal Storage Diseases.
Autorzy :
La Cognata V; Institute for Biomedical Research and Innovation, National Research Council, Via P. Gaifami 18, 95126 Catania, Italy.
Guarnaccia M; Institute for Biomedical Research and Innovation, National Research Council, Via P. Gaifami 18, 95126 Catania, Italy.
Polizzi A; Chair of Pediatrics, Department of Educational Sciences, University of Catania, Via Casa Nutrizione, 39, 95124 Catania, Italy.
Ruggieri M; Unit of Rare Diseases of the Nervous System in Childhood, Department of Clinical and Experimental Medicine, Section of Pediatrics and Child Neuropsychiatry, AOU 'Policlinico', PO 'G. Rodolico', Via S. Sofia, 78, 95123 Catania, Italy.
Cavallaro S; Institute for Biomedical Research and Innovation, National Research Council, Via P. Gaifami 18, 95126 Catania, Italy.
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Źródło :
Cells [Cells] 2020 Aug 14; Vol. 9 (8). Date of Electronic Publication: 2020 Aug 14.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't; Review
MeSH Terms :
Genome, Human*
Genomics/*methods
Lysosomal Storage Diseases/*diagnosis
Lysosomal Storage Diseases/*genetics
Lysosomes/*metabolism
Biomarkers ; Child ; Child, Preschool ; Enzyme Replacement Therapy/methods ; Genetic Therapy/methods ; Hematopoietic Stem Cell Transplantation/methods ; Humans ; Infant ; Infant, Newborn ; Lysosomal Storage Diseases/drug therapy ; Neonatal Screening/methods
Czasopismo naukowe
Tytuł :
Lysosomal Storage Disorders Shed Light on Lysosomal Dysfunction in Parkinson's Disease.
Autorzy :
Blumenreich S; Department of Biomolecular Sciences, Weizmann Institute of Science, Rehovot 76100, Israel.
Barav OB; Department of Biomolecular Sciences, Weizmann Institute of Science, Rehovot 76100, Israel.
Jenkins BJ; Department of Biomolecular Sciences, Weizmann Institute of Science, Rehovot 76100, Israel.; Department of Neurobiology, Max Planck Institute of Neurobiology, 82152 Planegg, Germany.
Futerman AH; Department of Biomolecular Sciences, Weizmann Institute of Science, Rehovot 76100, Israel.
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Źródło :
International journal of molecular sciences [Int J Mol Sci] 2020 Jul 14; Vol. 21 (14). Date of Electronic Publication: 2020 Jul 14.
Typ publikacji :
Journal Article; Review
MeSH Terms :
Lysosomal Storage Diseases/*complications
Lysosomal Storage Diseases/*metabolism
Lysosomes/*genetics
Parkinson Disease/*etiology
Parkinson Disease/*metabolism
Animals ; Brain/metabolism ; Glucosylceramidase/genetics ; Glucosylceramidase/metabolism ; Humans ; Lysosomal Storage Diseases/genetics ; Lysosomes/metabolism ; Mutation/genetics ; Parkinson Disease/genetics ; alpha-Synuclein/genetics ; alpha-Synuclein/metabolism
Czasopismo naukowe
Tytuł :
Cardiac involvement in Lysosomal Storage Diseases.
Autorzy :
Sestito S; Pediatric Unit, Department of Science of Health, University Magna Graecia of Catanzaro, Catanzaro, Italy.
Parisi F; Pediatric Unit, Department of Science of Health, University Magna Graecia of Catanzaro, Catanzaro, Italy.
Tallarico V; Pediatric Unit, Department of Science of Health, University Magna Graecia of Catanzaro, Catanzaro, Italy.
Tarsitano F; Pediatric Unit, Department of Science of Health, University Magna Graecia of Catanzaro, Catanzaro, Italy.
Roppa K; Pediatric Unit, Department of Science of Health, University Magna Graecia of Catanzaro, Catanzaro, Italy.
Pensabene L; Pediatric Unit, Department of Science of Health, University Magna Graecia of Catanzaro, Catanzaro, Italy.
Chimenz R; Department of Human Pathology in Adult and Developmental Age 'Gaetano Barresi', Unit of Pediatric Nephrology and Rheumatology with Dialysis, University of Messina, 'G. Martino' Policlinic, Italy.
Ceravolo G; Department of Human Pathology in Adult and Developmental Age 'Gaetano Barresi', Unit of Emergency Pediatrics, University of Messina, 'G. Martino' Policlinic, Italy.
Calabrò MP; Department of Human Pathology in Adult and Developmental Age 'Gaetano Barresi', Unit of Pediatric Cardiology, University of Messina, 'G. Martino' Policlinic, Italy.
De Sarro R; Pediatric Unit, Department of Science of Health, University Magna Graecia of Catanzaro, Catanzaro, Italy.
Moricca MT; Pediatric Unit, Department of Science of Health, University Magna Graecia of Catanzaro, Catanzaro, Italy.
Bonapace G; Pediatric Unit, Department of Science of Health, University Magna Graecia of Catanzaro, Catanzaro, Italy.
Concolino D; Pediatric Unit, Department of Science of Health, University Magna Graecia of Catanzaro, Catanzaro, Italy.
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Corporate Authors :
SPECIAL ISSUE: FOCUS ON PEDIATRIC CARDIOLOGY
Źródło :
Journal of biological regulators and homeostatic agents [J Biol Regul Homeost Agents] 2020 Jul-Aug; Vol. 34 (4 Suppl. 2), pp. 107-119.
Typ publikacji :
Journal Article; Review
MeSH Terms :
Fabry Disease*/complications
Fabry Disease*/diagnosis
Fabry Disease*/drug therapy
Heart Diseases*/etiology
Lysosomal Storage Diseases*/diagnosis
Lysosomal Storage Diseases*/drug therapy
Enzyme Replacement Therapy ; Humans
Czasopismo naukowe
Tytuł :
Precision Medicine for Lysosomal Disorders.
Autorzy :
Pinto E Vairo F; Center for Individualized Medicine, Mayo Clinic, Rochester, 55905 MN, USA.; Department of Clinical Genomics, Mayo Clinic, Rochester, 55905 MN, USA.
Rojas Málaga D; Grupo Fleury, São Paulo 04344-070, Brazil.
Kubaski F; Medical Genetics Service, HCPA, Porto Alegre 90035-903, Brazil.; Postgraduate Program in Genetics and Molecular Biology, UFRGS, Porto Alegre 91501-970, Brazil.; Biodiscovery Laboratory, HCPA, Porto Alegre 90035-903, Brazil.; INAGEMP, Porto Alegre 90035-004, Brazil.
Fischinger Moura de Souza C; Medical Genetics Service, HCPA, Porto Alegre 90035-903, Brazil.
de Oliveira Poswar F; Medical Genetics Service, HCPA, Porto Alegre 90035-903, Brazil.
Baldo G; Postgraduate Program in Genetics and Molecular Biology, UFRGS, Porto Alegre 91501-970, Brazil.; Gene Therapy Center, HCPA, Porto Alegre 90035-903, Brazil.; Department of Physiology and Pharmacology, UFRGS, Porto Alegre 90050-170, Brazil.; Postgraduate Program in Biological Sciences: Physiology, UFRGS, Porto Alegre 90050-170, Brazil.
Giugliani R; Medical Genetics Service, HCPA, Porto Alegre 90035-903, Brazil.; Postgraduate Program in Genetics and Molecular Biology, UFRGS, Porto Alegre 91501-970, Brazil.; Biodiscovery Laboratory, HCPA, Porto Alegre 90035-903, Brazil.; INAGEMP, Porto Alegre 90035-004, Brazil.; Gene Therapy Center, HCPA, Porto Alegre 90035-903, Brazil.; Department of Genetics, UFRGS, Porto Alegre 91501-970, Brazil.
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Źródło :
Biomolecules [Biomolecules] 2020 Jul 26; Vol. 10 (8). Date of Electronic Publication: 2020 Jul 26.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't; Review
MeSH Terms :
Lysosomal Storage Diseases/*therapy
Lysosomes/*pathology
Animals ; Enzyme Replacement Therapy ; Genetic Therapy ; Humans ; Lysosomal Storage Diseases/genetics ; Lysosomal Storage Diseases/pathology ; Precision Medicine
Czasopismo naukowe
Tytuł :
Newborn screening of mucopolysaccharidoses: past, present, and future.
Autorzy :
Arunkumar N; Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE, USA.; Department of Health Sciences, University of Delaware, Newark, DE, USA.
Langan TJ; Departments of Neurology Pediatrics, and Physiology and Biophysics, State University of New York at Buffalo, Buffalo, NY, USA.
Stapleton M; Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE, USA.; Department of Biological Sciences, University of Delaware, Newark, DE, USA.
Kubaski F; Medical Genetics Service, HCPA, Porto Alegre, Brazil.; Department of Genetics and Molecular Biology-PPGBM, UFRGS, Porto Alegre, Brazil.; INAGEMP, Porto Alegre, Brazil.
Mason RW; Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE, USA.; Department of Biological Sciences, University of Delaware, Newark, DE, USA.
Singh R; Baebies, 615 Davis Drive, Durham, NC, USA.
Kobayashi H; Department of Pediatrics, Shimane University Faculty of Medicine, Shimane, Japan.
Yamaguchi S; Department of Pediatrics, Shimane University Faculty of Medicine, Shimane, Japan.
Suzuki Y; Medical Education Development Center, Gifu University, Gifu, Japan.
Orii K; Department of Pediatrics, Graduate School of Medicine, Gifu University, Gifu, Japan.
Orii T; Department of Pediatrics, Graduate School of Medicine, Gifu University, Gifu, Japan.
Fukao T; Department of Pediatrics, Graduate School of Medicine, Gifu University, Gifu, Japan.
Tomatsu S; Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE, USA. .; Department of Biological Sciences, University of Delaware, Newark, DE, USA. .; Department of Pediatrics, Shimane University Faculty of Medicine, Shimane, Japan. .; Department of Pediatrics, Graduate School of Medicine, Gifu University, Gifu, Japan. .; Department of Pediatrics, Thomas Jefferson University, Philadelphia, PA, USA. .
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Źródło :
Journal of human genetics [J Hum Genet] 2020 Jul; Vol. 65 (7), pp. 557-567. Date of Electronic Publication: 2020 Apr 10.
Typ publikacji :
Journal Article; Review
MeSH Terms :
Neonatal Screening*
Lysosomal Storage Diseases/*diagnosis
Mucopolysaccharidoses/*diagnosis
Mucopolysaccharidosis I/*diagnosis
Glycosaminoglycans ; Humans ; Infant, Newborn ; Lysosomal Storage Diseases/epidemiology ; Lysosomal Storage Diseases/genetics ; Lysosomal Storage Diseases/pathology ; Mucopolysaccharidoses/epidemiology ; Mucopolysaccharidoses/genetics ; Mucopolysaccharidoses/pathology ; Mucopolysaccharidosis I/epidemiology ; Mucopolysaccharidosis I/genetics ; Mucopolysaccharidosis I/pathology ; Quality of Life ; Tandem Mass Spectrometry
Czasopismo naukowe
Tytuł :
A highly multiplexed biochemical assay for analytes in dried blood spots: application to newborn screening and diagnosis of lysosomal storage disorders and other inborn errors of metabolism.
Autorzy :
Hong X; Department of Chemistry, University of Washington, Seattle, WA, USA.
Sadilek M; Department of Chemistry, University of Washington, Seattle, WA, USA.
Gelb MH; Department of Chemistry, University of Washington, Seattle, WA, USA. .; Deparment of Biochemistry, University of Washington, Seattle, WA, USA. .
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Źródło :
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2020 Jul; Vol. 22 (7), pp. 1262-1268. Date of Electronic Publication: 2020 Apr 20.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural
MeSH Terms :
Lysosomal Storage Diseases*/diagnosis
Lysosomal Storage Diseases*/genetics
Neonatal Screening*
Chromatography, Liquid ; Dried Blood Spot Testing ; Humans ; Infant, Newborn ; Lysosomes ; Reproducibility of Results ; Tandem Mass Spectrometry
Czasopismo naukowe
Tytuł :
Spondyloepimetaphyseal dysplasia with elevated plasma lysosomal enzymes caused by homozygous variant in MBTPS1.
Autorzy :
Carvalho DR; SARAH Network of Rehabilitation Hospitals, Brasilia, Brazil.
Speck-Martins CE; SARAH Network of Rehabilitation Hospitals, Brasilia, Brazil.
Brum JM; SARAH Network of Rehabilitation Hospitals, Brasilia, Brazil.
Ferreira CR; Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.
Sobreira NLM; McKusick-Nathans Department of Genetic Medicine, Johns Hopkins School of Medicine, Baltimore, Maryland, USA.
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Źródło :
American journal of medical genetics. Part A [Am J Med Genet A] 2020 Jul; Vol. 182 (7), pp. 1796-1800. Date of Electronic Publication: 2020 May 18.
Typ publikacji :
Case Reports; Research Support, N.I.H., Extramural
MeSH Terms :
Cataract/*genetics
Lysosomal Storage Diseases/*genetics
Lysosomes/*genetics
Proprotein Convertases/*genetics
Serine Endopeptidases/*genetics
Cataract/diagnostic imaging ; Cataract/pathology ; Child, Preschool ; Female ; Humans ; Lysosomal Storage Diseases/blood ; Lysosomal Storage Diseases/diagnostic imaging ; Lysosomal Storage Diseases/pathology ; Lysosomes/enzymology ; Pedigree ; Phenotype
Raport
Tytuł :
Long-term observation of a Japanese mucolipidosis IV patient with a novel homozygous p.F313del variant of MCOLN1.
Autorzy :
Hayashi T; Department of Ophthalmology, The Jikei University School of Medicine, Tokyo, Japan.; Department of Ophthalmology, Katsushika Medical Center, The Jikei University School of Medicine, Tokyo, Japan.
Hosono K; Department of Ophthalmology, Hamamatsu University School of Medicine, Shizuoka, Japan.
Kubo A; Department of Ophthalmology, The Jikei University School of Medicine, Tokyo, Japan.; Department of Ophthalmology, Kinan Hospital, Mie, Japan.
Kurata K; Department of Ophthalmology, Hamamatsu University School of Medicine, Shizuoka, Japan.
Katagiri S; Department of Ophthalmology, The Jikei University School of Medicine, Tokyo, Japan.
Mizobuchi K; Department of Ophthalmology, The Jikei University School of Medicine, Tokyo, Japan.
Kurai M; Department of Pediatrics, Kinan Hospital, Mie, Japan.
Mamiya N; Department of Pediatrics, Kinan Hospital, Mie, Japan.; Department of Pediatrics, Mie University Graduate School of Medicine, Mie, Japan.
Kondo M; Department of Ophthalmology, Mie University Graduate School of Medicine, Mie, Japan.
Tachibana T; Core Research Facilities for Basic Science, The Jikei University School of Medicine, Tokyo, Japan.
Saitsu H; Department of Biochemistry, Hamamatsu University School of Medicine, Shizuoka, Japan.
Ogata T; Department of Pediatrics, Hamamatsu University School of Medicine, Shizuoka, Japan.
Nakano T; Department of Ophthalmology, The Jikei University School of Medicine, Tokyo, Japan.
Hotta Y; Department of Ophthalmology, Hamamatsu University School of Medicine, Shizuoka, Japan.
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Źródło :
American journal of medical genetics. Part A [Am J Med Genet A] 2020 Jun; Vol. 182 (6), pp. 1500-1505. Date of Electronic Publication: 2020 Mar 27.
Typ publikacji :
Case Reports; Research Support, Non-U.S. Gov't
MeSH Terms :
Lysosomal Storage Diseases/*genetics
Lysosomes/*genetics
Mucolipidoses/*genetics
Transient Receptor Potential Channels/*genetics
Adolescent ; Child ; Child, Preschool ; Corpus Callosum/diagnostic imaging ; Corpus Callosum/physiopathology ; Homozygote ; Humans ; Lysosomal Storage Diseases/diagnostic imaging ; Lysosomal Storage Diseases/physiopathology ; Lysosomes/pathology ; Magnetic Resonance Imaging ; Male ; Mucolipidoses/diagnostic imaging ; Mucolipidoses/physiopathology ; Mutation/genetics ; Psychomotor Disorders/complications ; Psychomotor Disorders/genetics ; Psychomotor Disorders/physiopathology ; Retinal Degeneration/complications ; Retinal Degeneration/genetics ; Retinal Degeneration/physiopathology
Raport
Tytuł :
Impact of COVID-19 related healthcare crisis on treatments for patients with lysosomal storage disorders, the first Italian experience.
Autorzy :
Sechi A; Regional Coordinating Center for Rare Diseases, University Hospital of Udine, Udine, Italy. Electronic address: .
Macor D; Regional Coordinating Center for Rare Diseases, University Hospital of Udine, Udine, Italy.
Valent S; Regional Coordinating Center for Rare Diseases, University Hospital of Udine, Udine, Italy.
Da Riol RM; Regional Coordinating Center for Rare Diseases, University Hospital of Udine, Udine, Italy.
Zanatta M; Regional Coordinating Center for Rare Diseases, University Hospital of Udine, Udine, Italy.
Spinelli A; Regional Coordinating Center for Rare Diseases, University Hospital of Udine, Udine, Italy.
Bianchi K; Regional Coordinating Center for Rare Diseases, University Hospital of Udine, Udine, Italy.
Bertossi N; Regional Coordinating Center for Rare Diseases, University Hospital of Udine, Udine, Italy.
Dardis A; Regional Coordinating Center for Rare Diseases, University Hospital of Udine, Udine, Italy.
Valent F; Institute of Hygiene and Clinical Epidemiology, University Hospital of Udine, Udine, Italy.
Scarpa M; Regional Coordinating Center for Rare Diseases, University Hospital of Udine, Udine, Italy.
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Źródło :
Molecular genetics and metabolism [Mol Genet Metab] 2020 Jul; Vol. 130 (3), pp. 170-171. Date of Electronic Publication: 2020 Apr 29.
Typ publikacji :
Journal Article
MeSH Terms :
Coronavirus Infections/*epidemiology
Lysosomal Storage Diseases/*therapy
Pneumonia, Viral/*epidemiology
Adult ; COVID-19 ; Coronavirus Infections/complications ; Coronavirus Infections/psychology ; Coronavirus Infections/therapy ; Enzyme Replacement Therapy ; Fear ; Female ; Humans ; Italy/epidemiology ; Lysosomal Storage Diseases/complications ; Male ; Middle Aged ; Pandemics ; Patient Acceptance of Health Care ; Patient Care Management ; Pneumonia, Viral/complications ; Pneumonia, Viral/psychology ; Pneumonia, Viral/therapy ; Surveys and Questionnaires ; Young Adult
Czasopismo naukowe

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