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Tytuł:
Alterations in Proteostasis Mechanisms in Niemann-Pick Type C Disease.
Autorzy:
Servín Muñoz IV; Laboratorio de Neuroinmunobiología Molecular, Instituto de Investigación en Ciencias Biomédicas (IICB), Centro Universitario de Ciencias de la Salud (CUCS), Universidad de Guadalajara, Guadalajara 44340, Mexico.
Ortuño-Sahagún D; Laboratorio de Neuroinmunobiología Molecular, Instituto de Investigación en Ciencias Biomédicas (IICB), Centro Universitario de Ciencias de la Salud (CUCS), Universidad de Guadalajara, Guadalajara 44340, Mexico.
Griñán-Ferré C; Pharmacology Section, Department of Pharmacology, Toxicology and Therapeutic Chemistry, Faculty of Pharmacy and Food Sciences, Institute of Neuroscience, Universitat de Barcelona, 08028 Barcelona, Spain.; Centro de Investigación Biomédica en Red (CiberNed), Network Center for Neurodegenerative Diseases, National Spanish Health Institute Carlos III, 28220 Madrid, Spain.
Pallàs M; Pharmacology Section, Department of Pharmacology, Toxicology and Therapeutic Chemistry, Faculty of Pharmacy and Food Sciences, Institute of Neuroscience, Universitat de Barcelona, 08028 Barcelona, Spain.; Centro de Investigación Biomédica en Red (CiberNed), Network Center for Neurodegenerative Diseases, National Spanish Health Institute Carlos III, 28220 Madrid, Spain.
González-Castillo C; Tecnologico de Monterrey, Escuela de Medicina y Ciencias de la Salud, Campus Guadalajara, Zapopan 45201, Mexico.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2024 Mar 29; Vol. 25 (7). Date of Electronic Publication: 2024 Mar 29.
Typ publikacji:
Journal Article; Review
MeSH Terms:
Niemann-Pick Disease, Type C*/drug therapy
Lysosomal Storage Diseases*
Humans ; Proteostasis ; Protein Folding ; Proteolysis
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Clinical investigator perspectives on patient outcomes in children with neuronopathic mucopolysaccharidosis II during intrathecal idursulfase-IT treatment.
Autorzy:
Yee KS; Takeda Development Center Americas, Inc., Cambridge, MA, USA.; Present affiliation: Alexion Pharmaceuticals, Inc., AstraZeneca Rare Disease, Boston, MA, USA.
Alexanderian D; Takeda Development Center Americas, Inc., Lexington, MA, USA.; Present affiliation: Merck, Boston, MA, USA.
Martin S; RTI Health Solutions, Ann Arbor, MI, USA.
Olayinka-Amao B; RTI Health Solutions, Research Triangle Park, NC, USA.
Whiteman DAH; Takeda Development Center Americas, Inc., Lexington, MA, USA. .
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Źródło:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2024 Apr 12; Vol. 19 (1), pp. 158. Date of Electronic Publication: 2024 Apr 12.
Typ publikacji:
Journal Article
MeSH Terms:
Mucopolysaccharidosis II*/drug therapy
Iduronate Sulfatase*/therapeutic use
Lysosomal Storage Diseases*
Child ; Humans ; Research Personnel
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Modeling Lysosomal Storage Disorders in an Innovative Way: Establishment and Characterization of Stem Cell Lines from Human Exfoliated Deciduous Teeth of Mucopolysaccharidosis Type II Patients.
Autorzy:
Carvalho 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-Institute of Sciences, Technologies and Agro-Environment, CECA-ICETA, University of Porto, Praça Gomes Teixeira, Apartado 55142, 4051-401 Porto, Portugal.; Associate Laboratory for Animal and Veterinary Sciences, AL4AnimalS, Faculty of Veterinary Medicine, University of Lisboa, Avenida da Universidade Técnica, 1300-477 Lisboa, Portugal.; Faculty of Pharmacy, University of Coimbra, Polo das Ciências da Saúde, Azinhaga de Santa Comba, 3000-548 Coimbra, 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.; Center for the Study of Animal Science-Institute of Sciences, Technologies and Agro-Environment, CECA-ICETA, University of Porto, Praça Gomes Teixeira, Apartado 55142, 4051-401 Porto, Portugal.; Associate Laboratory for Animal and Veterinary Sciences, AL4AnimalS, Faculty of Veterinary Medicine, University of Lisboa, Avenida da Universidade Técnica, 1300-477 Lisboa, Portugal.; Biology Department, Faculty of Sciences, University of Porto, Rua do Campo Alegre, 4169-007 Porto, Portugal.
Moreira 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-Institute of Sciences, Technologies and Agro-Environment, CECA-ICETA, University of Porto, Praça Gomes Teixeira, Apartado 55142, 4051-401 Porto, Portugal.; Associate Laboratory for Animal and Veterinary Sciences, AL4AnimalS, Faculty of Veterinary Medicine, University of Lisboa, Avenida da Universidade Técnica, 1300-477 Lisboa, Portugal.
Duarte AJ; 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-Institute of Sciences, Technologies and Agro-Environment, CECA-ICETA, University of Porto, Praça Gomes Teixeira, Apartado 55142, 4051-401 Porto, Portugal.; Associate Laboratory for Animal and Veterinary Sciences, AL4AnimalS, Faculty of Veterinary Medicine, University of Lisboa, Avenida da Universidade Técnica, 1300-477 Lisboa, Portugal.; School of Medicine and Biomedical Sciences (ICBAS), Faculty of Porto, Rua de Jorge Viterbo Ferreira 228, 4050-313 Porto, Portugal.
Gaspar P; Newborn Screening, Metabolism and Genetics Unit, Department of Human Genetics, National Institute of Health Doutor Ricardo Jorge, INSA I.P., Rua Alexandre Herculano, 321, 4000-055 Porto, Portugal.
Rocha H; Newborn Screening, Metabolism and Genetics Unit, Department of Human Genetics, National Institute of Health Doutor Ricardo Jorge, INSA I.P., Rua Alexandre Herculano, 321, 4000-055 Porto, Portugal.
Encarnação M; 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-Institute of Sciences, Technologies and Agro-Environment, CECA-ICETA, University of Porto, Praça Gomes Teixeira, Apartado 55142, 4051-401 Porto, Portugal.; Associate Laboratory for Animal and Veterinary Sciences, AL4AnimalS, Faculty of Veterinary Medicine, University of Lisboa, Avenida da Universidade Técnica, 1300-477 Lisboa, Portugal.
Ribeiro D; 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-Institute of Sciences, Technologies and Agro-Environment, CECA-ICETA, University of Porto, Praça Gomes Teixeira, Apartado 55142, 4051-401 Porto, Portugal.; Associate Laboratory for Animal and Veterinary Sciences, AL4AnimalS, Faculty of Veterinary Medicine, University of Lisboa, Avenida da Universidade Técnica, 1300-477 Lisboa, Portugal.
Barbosa Almeida M; 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-Institute of Sciences, Technologies and Agro-Environment, CECA-ICETA, University of Porto, Praça Gomes Teixeira, Apartado 55142, 4051-401 Porto, Portugal.; Associate Laboratory for Animal and Veterinary Sciences, AL4AnimalS, Faculty of Veterinary Medicine, University of Lisboa, Avenida da Universidade Técnica, 1300-477 Lisboa, Portugal.; Department of Medical Sciences, Campus Universitário de Santiago, Edifício da Saúde, Agra do Crasto, 3810-193 Aveiro, Portugal.
Gonçalves M; 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-Institute of Sciences, Technologies and Agro-Environment, CECA-ICETA, University of Porto, Praça Gomes Teixeira, Apartado 55142, 4051-401 Porto, Portugal.; Associate Laboratory for Animal and Veterinary Sciences, AL4AnimalS, Faculty of Veterinary Medicine, University of Lisboa, Avenida da Universidade Técnica, 1300-477 Lisboa, Portugal.; Centre for the Research and Technology of Agro-Environmental and Biological Sciences, CITAB, Inov4Agro, University of Trás-os-Montes and Alto Douro, 5000-801 Vila Real, Portugal.
David H; 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-Institute of Sciences, Technologies and Agro-Environment, CECA-ICETA, University of Porto, Praça Gomes Teixeira, Apartado 55142, 4051-401 Porto, Portugal.; Associate Laboratory for Animal and Veterinary Sciences, AL4AnimalS, Faculty of Veterinary Medicine, University of Lisboa, Avenida da Universidade Técnica, 1300-477 Lisboa, Portugal.; Biology Department, Faculty of Sciences, University of Porto, Rua do Campo Alegre, 4169-007 Porto, 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-Institute of Sciences, Technologies and Agro-Environment, CECA-ICETA, University of Porto, Praça Gomes Teixeira, Apartado 55142, 4051-401 Porto, Portugal.; Associate Laboratory for Animal and Veterinary Sciences, AL4AnimalS, Faculty of Veterinary Medicine, University of Lisboa, Avenida da Universidade Técnica, 1300-477 Lisboa, Portugal.
Amaral O; 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-Institute of Sciences, Technologies and Agro-Environment, CECA-ICETA, University of Porto, Praça Gomes Teixeira, Apartado 55142, 4051-401 Porto, Portugal.; Associate Laboratory for Animal and Veterinary Sciences, AL4AnimalS, Faculty of Veterinary Medicine, University of Lisboa, Avenida da Universidade Técnica, 1300-477 Lisboa, Portugal.
Diogo L; Centro de Referência de Doenças Hereditárias do Metabolismo do Centro Hospitalar Universitário de Coimbra, CR-DHM (CHUC), Praceta Professor Mota Pinto, 3004-561 Coimbra, Portugal.
Ferreira S; Centro de Referência de Doenças Hereditárias do Metabolismo do Centro Hospitalar Universitário de Coimbra, CR-DHM (CHUC), Praceta Professor Mota Pinto, 3004-561 Coimbra, Portugal.
Santos C; Centro de Referência de Doenças Hereditárias do Metabolismo do Centro Hospitalar Universitário de Coimbra, CR-DHM (CHUC), Praceta Professor Mota Pinto, 3004-561 Coimbra, Portugal.
Martins E; Centro Hospitalar Universitário do Porto, Hospital de Santo António, CHPorto, Largo do Prof. Abel Salazar, 4099-001 Porto, Portugal.
Prata MJ; Biology Department, Faculty of Sciences, University of Porto, Rua do Campo Alegre, 4169-007 Porto, Portugal.; Health Research and Innovation Institute, University of Porto, i3S, Rua Alfredo Allen 208, 4200-135 Porto, Portugal.
Pereira de Almeida L; Faculty of Pharmacy, University of Coimbra, Polo das Ciências da Saúde, Azinhaga de Santa Comba, 3000-548 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-Institute of Sciences, Technologies and Agro-Environment, CECA-ICETA, University of Porto, Praça Gomes Teixeira, Apartado 55142, 4051-401 Porto, Portugal.; Associate Laboratory for Animal and Veterinary Sciences, AL4AnimalS, Faculty of Veterinary Medicine, University of Lisboa, Avenida da Universidade Técnica, 1300-477 Lisboa, Portugal.
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-Institute of Sciences, Technologies and Agro-Environment, CECA-ICETA, University of Porto, Praça Gomes Teixeira, Apartado 55142, 4051-401 Porto, Portugal.; Associate Laboratory for Animal and Veterinary Sciences, AL4AnimalS, Faculty of Veterinary Medicine, University of Lisboa, Avenida da Universidade Técnica, 1300-477 Lisboa, Portugal.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2024 Mar 21; Vol. 25 (6). Date of Electronic Publication: 2024 Mar 21.
Typ publikacji:
Journal Article
MeSH Terms:
Mucopolysaccharidosis II*
Lysosomal Storage Diseases*
Humans ; Stem Cells ; Cell Line ; Tooth, Deciduous ; Lysosomes ; Dental Pulp ; Cell Differentiation/physiology ; Cell Proliferation
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
A systematic review on the birth prevalence of metachromatic leukodystrophy.
Autorzy:
Chang SC; Takeda Development Center Americas, Inc., Lexington, MA, USA. .
Bergamasco A; YOLARX Consultants, SAS, Paris, France.
Bonnin M; YOLARX Consultants, SAS, Paris, France.
Bisonó TA; YOLARX Consultants, SAS, Paris, France.
Moride Y; YOLARX Consultants, Inc, Montreal, QC, Canada.
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Źródło:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2024 Feb 21; Vol. 19 (1), pp. 80. Date of Electronic Publication: 2024 Feb 21.
Typ publikacji:
Journal Article; Systematic Review
MeSH Terms:
Leukodystrophy, Metachromatic*/genetics
Lysosomal Storage Diseases*
Adult ; Humans ; Cerebroside-Sulfatase/genetics ; Europe ; Prevalence
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Impact of COVID-19 pandemic on healthcare delivery for lysosomal storage disorders at a tertiary care public hospital in Mumbai.
Autorzy:
Muranjan M; Genetic Clinic, Department of Pediatrics, Seth G.S. Medical College and K.E.M. Hospital, Parel, Mumbai, Maharashtra, India.
Karande S; Genetic Clinic, Department of Pediatrics, Seth G.S. Medical College and K.E.M. Hospital, Parel, Mumbai, Maharashtra, India.
Rajoria S; Genetic Clinic, Department of Pediatrics, Seth G.S. Medical College and K.E.M. Hospital, Parel, Mumbai, Maharashtra, India.
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Źródło:
Journal of postgraduate medicine [J Postgrad Med] 2024 Jan-Mar; Vol. 70 (1), pp. 23-28.
Typ publikacji:
Observational Study; Journal Article
MeSH Terms:
COVID-19*
Lysosomal Storage Diseases*/therapy
Humans ; Pandemics ; Tertiary Healthcare ; Hospitals, Public ; Lysosomes
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Triple Genetic Diagnosis in a Patient with Late-Onset Leukodystrophy and Mild Intellectual Disability.
Autorzy:
Pasquetti D; Section of Genomic Medicine, Department of Life Sciences and Public Health, Università Cattolica del Sacro Cuore, 00168 Rome, Italy.; Medical Genetics Unit, Fondazione Policlinico Universitario 'A. Gemelli' IRCCS, 00168 Rome, Italy.
Gazzellone A; Section of Genomic Medicine, Department of Life Sciences and Public Health, Università Cattolica del Sacro Cuore, 00168 Rome, Italy.; Medical Genetics Unit, Fondazione Policlinico Universitario 'A. Gemelli' IRCCS, 00168 Rome, Italy.
Rossi S; Department of Neurosciences, Faculty of Medicine and Surgery, Università Cattolica del Sacro Cuore, 00168 Rome, Italy.; Neurology Unit, Fondazione Policlinico Universitario 'A. Gemelli' IRCCS, 00168 Rome, Italy.
Orteschi D; Section of Genomic Medicine, Department of Life Sciences and Public Health, Università Cattolica del Sacro Cuore, 00168 Rome, Italy.; Medical Genetics Unit, Fondazione Policlinico Universitario 'A. Gemelli' IRCCS, 00168 Rome, Italy.
L'Erario FF; Section of Genomic Medicine, Department of Life Sciences and Public Health, Università Cattolica del Sacro Cuore, 00168 Rome, Italy.; Medical Genetics Unit, Fondazione Policlinico Universitario 'A. Gemelli' IRCCS, 00168 Rome, Italy.
Concolino P; Departmental Unit of Molecular and Genomic Diagnostics, Fondazione Policlinico Universitario 'A. Gemelli' IRCCS, 00168 Rome, Italy.
Minucci A; Departmental Unit of Molecular and Genomic Diagnostics, Fondazione Policlinico Universitario 'A. Gemelli' IRCCS, 00168 Rome, Italy.
Dionisi-Vici C; Division of Metabolic Diseases, Bambino Gesù Children's Hospital IRCCS, 00165 Rome, Italy.
Genuardi M; Section of Genomic Medicine, Department of Life Sciences and Public Health, Università Cattolica del Sacro Cuore, 00168 Rome, Italy.; Medical Genetics Unit, Fondazione Policlinico Universitario 'A. Gemelli' IRCCS, 00168 Rome, Italy.
Silvestri G; Department of Neurosciences, Faculty of Medicine and Surgery, Università Cattolica del Sacro Cuore, 00168 Rome, Italy.; Neurology Unit, Fondazione Policlinico Universitario 'A. Gemelli' IRCCS, 00168 Rome, Italy.
Chiurazzi P; Section of Genomic Medicine, Department of Life Sciences and Public Health, Università Cattolica del Sacro Cuore, 00168 Rome, Italy.; Medical Genetics Unit, Fondazione Policlinico Universitario 'A. Gemelli' IRCCS, 00168 Rome, Italy.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2023 Dec 29; Vol. 25 (1). Date of Electronic Publication: 2023 Dec 29.
Typ publikacji:
Case Reports
MeSH Terms:
Intellectual Disability*/diagnosis
Intellectual Disability*/genetics
Polycystic Kidney, Autosomal Dominant*
Cognitive Dysfunction*
Demyelinating Diseases*
Lipid Metabolism Disorders*
Lysosomal Storage Diseases*
Neurodegenerative Diseases*
Phenylketonurias*
Adult ; Male ; Humans ; Chromosomes, Human, Pair 15 ; Late Onset Disorders
Raport
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Validation of a highly sensitive HaloTag-based assay to evaluate the potency of a novel class of allosteric β-Galactosidase correctors.
Autorzy:
Rudinskiy M; Università Della Svizzera Italiana, Lugano, Switzerland.; Department of Biology, Swiss Federal Institute of Technology, Zurich, Switzerland.; Institute for Research in Biomedicine, Bellinzona, Switzerland.
Pons-Vizcarra M; Gain Therapeutics Sucursal en España, Parc Científic de Barcelona, Barcelona, Spain.
Soldà T; Università Della Svizzera Italiana, Lugano, Switzerland.; Institute for Research in Biomedicine, Bellinzona, Switzerland.
Fregno I; Università Della Svizzera Italiana, Lugano, Switzerland.; Institute for Research in Biomedicine, Bellinzona, Switzerland.
Bergmann TJ; Università Della Svizzera Italiana, Lugano, Switzerland.; Institute for Research in Biomedicine, Bellinzona, Switzerland.
Ruano A; Gain Therapeutics Sucursal en España, Parc Científic de Barcelona, Barcelona, Spain.
Delgado A; Gain Therapeutics Sucursal en España, Parc Científic de Barcelona, Barcelona, Spain.
Morales S; Gain Therapeutics Sucursal en España, Parc Científic de Barcelona, Barcelona, Spain.
Barril X; Gain Therapeutics Sucursal en España, Parc Científic de Barcelona, Barcelona, Spain.; Facultat de Farmacia, IBUB & IQTC, Universitat de Barcelona, Barcelona, Spain.; Catalan Institution for Research and Advanced Studies (ICREA), Barcelona, Spain.
Bellotto M; GT Gain Therapeutics SA, Lugano, Switzerland.
Cubero E; Gain Therapeutics Sucursal en España, Parc Científic de Barcelona, Barcelona, Spain.
García-Collazo AM; Gain Therapeutics Sucursal en España, Parc Científic de Barcelona, Barcelona, Spain.
Pérez-Carmona N; Gain Therapeutics Sucursal en España, Parc Científic de Barcelona, Barcelona, Spain.
Molinari M; Università Della Svizzera Italiana, Lugano, Switzerland.; Institute for Research in Biomedicine, Bellinzona, Switzerland.; School of Life Sciences, École Polytechnique Fédérale de Lausanne, Lausanne, Switzerland.
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Źródło:
PloS one [PLoS One] 2023 Nov 29; Vol. 18 (11), pp. e0294437. Date of Electronic Publication: 2023 Nov 29 (Print Publication: 2023).
Typ publikacji:
Journal Article
MeSH Terms:
Gangliosidosis, GM1*/drug therapy
Gangliosidosis, GM1*/genetics
Gangliosidosis, GM1*/metabolism
Lysosomal Storage Diseases*
Animals ; Dogs ; 1-Deoxynojirimycin/pharmacology ; beta-Galactosidase/metabolism
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Examining the Role of a Functional Deficiency of Iron in Lysosomal Storage Disorders with Translational Relevance to Alzheimer's Disease.
Autorzy:
LeVine SM; Department of Cell Biology and Physiology, University of Kansas Medical Center, Kansas City, KS 66160, USA.
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Źródło:
Cells [Cells] 2023 Nov 16; Vol. 12 (22). Date of Electronic Publication: 2023 Nov 16.
Typ publikacji:
Journal Article; Review; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms:
Alzheimer Disease*/metabolism
Lysosomal Storage Diseases*
Iron Deficiencies*
Humans ; Iron/metabolism ; Amyloid beta-Peptides/metabolism ; Lysosomes/metabolism
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Changing clinical manifestations of Gaucher disease in Taiwan.
Autorzy:
Lu WL; Department of Clinical Pathology, Chi Mei Medical Center, Tainan, Taiwan.
Chien YH; Department of Medical Genetics, National Taiwan University Hospital, 8 Chung-Shan South Road, Taipei, 10041, Taiwan.; Department of Pediatrics, National Taiwan University Hospital, Taipei, Taiwan.
Tsai FJ; Division of Medical Genetics, Pediatric Endocrinology and Metabolism, China Medical University Children's Hospital, 2, Yude Road, North District, Taichung City, 40447, Taiwan.; School of Chinese Medicine, College of Medicine, China Medical University, Taichung, Taiwan.
Hwu WL; Department of Medical Genetics, National Taiwan University Hospital, 8 Chung-Shan South Road, Taipei, 10041, Taiwan.; Department of Pediatrics, National Taiwan University Hospital, Taipei, Taiwan.; Center for Precision Medicine, China Medical University Hospital, Taichung, Taiwan.
Chou YY; Department of Pediatrics, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan, Taiwan.
Chu SY; Department of Pediatrics, Buddhist Tzu Chi General Hospital, Hualien, Taiwan.; School of Medicine, Tzu Chi University, Hualien, Taiwan.
Li MJ; Department of Pediatrics, National Taiwan University Hospital Hsin-Chu Branch, Hsinchu City, Taiwan.
Lee AJ; Department of Medical Genetics, National Taiwan University Hospital, 8 Chung-Shan South Road, Taipei, 10041, Taiwan.
Liao CC; Department of Medical Genetics, National Taiwan University Hospital, 8 Chung-Shan South Road, Taipei, 10041, Taiwan.
Wang CH; Division of Medical Genetics, Pediatric Endocrinology and Metabolism, China Medical University Children's Hospital, 2, Yude Road, North District, Taichung City, 40447, Taiwan. .; School of Medicine, College of Medicine, China Medical University, Taichung, Taiwan. .
Lee NC; Department of Medical Genetics, National Taiwan University Hospital, 8 Chung-Shan South Road, Taipei, 10041, Taiwan. .; Department of Pediatrics, National Taiwan University Hospital, Taipei, Taiwan. .
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Źródło:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2023 Sep 15; Vol. 18 (1), pp. 293. Date of Electronic Publication: 2023 Sep 15.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Gaucher Disease*/drug therapy
Gaucher Disease*/genetics
Lysosomal Storage Diseases*
Infant, Newborn ; Humans ; Taiwan ; Disease Progression ; Enzyme Replacement Therapy
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Patient-reported outcomes in Gaucher's disease: a systematic review.
Autorzy:
Feng J; Centre for Health Management and Policy Research, School of Public Health, Cheeloo College of Medicine, Shandong University, Jinan, 250012, China.; NHC Key Lab of Health Economics and Policy Research (Shandong University), Jinan, 250012, China.; Center for Health Preference Research, Shandong University, Jinan, 250012, China.
Gao Z; Qingdao Hospital, University of Health and Rehabilitation Sciences (Qingdao Municipal Hospital), Qingdao, 266011, China.
Shi Z; Centre for Health Management and Policy Research, School of Public Health, Cheeloo College of Medicine, Shandong University, Jinan, 250012, China.; NHC Key Lab of Health Economics and Policy Research (Shandong University), Jinan, 250012, China.; Center for Health Preference Research, Shandong University, Jinan, 250012, China.
Wang Y; Centre for Health Management and Policy Research, School of Public Health, Cheeloo College of Medicine, Shandong University, Jinan, 250012, China.; NHC Key Lab of Health Economics and Policy Research (Shandong University), Jinan, 250012, China.; Center for Health Preference Research, Shandong University, Jinan, 250012, China.
Li S; Centre for Health Management and Policy Research, School of Public Health, Cheeloo College of Medicine, Shandong University, Jinan, 250012, China. .; NHC Key Lab of Health Economics and Policy Research (Shandong University), Jinan, 250012, China. .; Center for Health Preference Research, Shandong University, Jinan, 250012, China. .
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Źródło:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2023 Aug 25; Vol. 18 (1), pp. 244. Date of Electronic Publication: 2023 Aug 25.
Typ publikacji:
Journal Article; Systematic Review; Research Support, Non-U.S. Gov't
MeSH Terms:
Gaucher Disease*
Lysosomal Storage Diseases*
Humans ; Cross-Sectional Studies ; Fatigue ; Quality of Life
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Wyświetlanie 1-10 z 8079

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