Zobrazeno 1 - 10
of 5 711
pro vyhledávání: '"GM1"'
Autor:
Liu S; Department of Guangzhou Newborn Screening Center, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou 510623, China., Xie T; Department of Guangzhou Newborn Screening Center, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou 510623, China., Huang Y; Department of Guangzhou Newborn Screening Center, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou 510623, China.
Publikováno v:
International journal of molecular sciences [Int J Mol Sci] 2024 Sep 08; Vol. 25 (17). Date of Electronic Publication: 2024 Sep 08.
Autor:
Rha AK; Research Institute, Children's Hospital of Orange County, Orange, CA 92868, United States., Kan SH; Research Institute, Children's Hospital of Orange County, Orange, CA 92868, United States., Andrade-Heckman P; Research Institute, Children's Hospital of Orange County, Orange, CA 92868, United States., Christensen CL; Research Institute, Children's Hospital of Orange County, Orange, CA 92868, United States., Harb JF; Research Institute, Children's Hospital of Orange County, Orange, CA 92868, United States., Wang RY; Division of Metabolic Disorders, Children's Hospital of Orange County Specialists, Orange, CA 92868, United States; Department of Pediatrics, University of California-Irvine School of Medicine, Irvine, CA 92697, United States. Electronic address: rawang@choc.org.
Publikováno v:
Molecular genetics and metabolism [Mol Genet Metab] 2024 Sep-Oct; Vol. 143 (1-2), pp. 108568. Date of Electronic Publication: 2024 Sep 07.
Autor:
Hosseini K; Department of Molecular Medicine, School of Advanced Medical Sciences and Technologies, Shiraz University of Medical Sciences, Shiraz, Iran., Fallahi J; Department of Molecular Medicine, School of Advanced Medical Sciences and Technologies, Shiraz University of Medical Sciences, Shiraz, Iran., Aligholi H; Department of Neuroscience, School of Advanced Medical Sciences and Technologies, Shiraz University of Medical Sciences, Shiraz, Iran., Heidari Z; Department of Molecular Medicine, School of Advanced Medical Sciences and Technologies, Shiraz University of Medical Sciences, Shiraz, Iran., Nadimi E; Department of Molecular Medicine, School of Advanced Medical Sciences and Technologies, Shiraz University of Medical Sciences, Shiraz, Iran., Safari F; Diagnostic Laboratory Sciences and Technology Research Center, School of Paramedical Sciences, Shiraz University of Medical Sciences, Shiraz, Iran., Sisakht M; Department of Molecular Medicine, School of Advanced Medical Sciences and Technologies, Shiraz University of Medical Sciences, Shiraz, Iran., Atapour A; Department of Medical Biotechnology, School of Advanced Medical Sciences and Technologies, Shiraz University of Medical Sciences, Shiraz, Iran., Khajeh S; Bone and Joint Diseases Research Center, Shiraz University of Medical Sciences, Shiraz, Iran., Tabei SMB; Department of Medical Genetics, School of Medical Sciences, Shiraz University of Medical Sciences, Shiraz, Iran., Razban V; Department of Molecular Medicine, School of Advanced Medical Sciences and Technologies, Shiraz University of Medical Sciences, Shiraz, Iran.; Stem Cells Technology Research Center, Shiraz University of Medical Sciences, Shiraz, Iran.
Publikováno v:
Cell biochemistry and function [Cell Biochem Funct] 2024 Aug; Vol. 42 (6), pp. e4102.
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.
Autor:
Weesner JA; St. Jude Children's Research Hospital, Department of Genetics, Memphis, TN 38105, USA., Annunziata I; St. Jude Children's Research Hospital, Department of Genetics, Memphis, TN 38105, USA; St. Jude Children's Research Hospital, Compliance Office, Memphis, TN 38105, USA., van de Vlekkert D; St. Jude Children's Research Hospital, Department of Genetics, Memphis, TN 38105, USA., Robinson CG; St. Jude Children's Research Hospital, Cellular Imaging Shared Resource, Memphis, TN 38105, USA., Campos Y; St. Jude Children's Research Hospital, Department of Genetics, Memphis, TN 38105, USA., Mishra A; St. Jude Children's Research Hospital, Center for Proteomics and Metabolomics, Memphis, TN 38105, USA., Fremuth LE; St. Jude Children's Research Hospital, Department of Genetics, Memphis, TN 38105, USA., Gomero E; St. Jude Children's Research Hospital, Department of Genetics, Memphis, TN 38105, USA., Hu H; St. Jude Children's Research Hospital, Department of Genetics, Memphis, TN 38105, USA., d'Azzo A; St. Jude Children's Research Hospital, Department of Genetics, Memphis, TN 38105, USA; University of Tennessee Health Science Center, Department of Anatomy and Physiology, Memphis, TN 38163, USA. Electronic address: sandra.dazzo@stjude.org.
Publikováno v:
Cell reports [Cell Rep] 2024 May 28; Vol. 43 (5), pp. 114117. Date of Electronic Publication: 2024 Apr 16.
Autor:
Hosseini K; Student Research Committee, Shiraz University of Medical Sciences, Shiraz, Iran.; Department of Molecular Medicine, Faculty of Advanced Medical Sciences and Technologies, Shiraz University of Medical Sciences, Shiraz, Iran., Fallahi J; Department of Molecular Medicine, Faculty of Advanced Medical Sciences and Technologies, Shiraz University of Medical Sciences, Shiraz, Iran., Tabei SMB; Department of Medical Genetics, Shiraz University of Medical Sciences, Shiraz, Iran.; Comprehensive Medical Genetic Center, Shiraz University of Medical Sciences, Shiraz, Iran., Razban V; Department of Molecular Medicine, Faculty of Advanced Medical Sciences and Technologies, Shiraz University of Medical Sciences, Shiraz, Iran.; Stem Cells Technology Research Center, Shiraz University of Medical Sciences, Shiraz, Iran.
Publikováno v:
Cell biochemistry and function [Cell Biochem Funct] 2023 Dec; Vol. 41 (8), pp. 1093-1105. Date of Electronic Publication: 2023 Nov 29.
Autor:
Allende ML; Genetics of Development and Disease Section, Genetics and Biochemistry Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD, USA., Lee YT; Genetics of Development and Disease Section, Genetics and Biochemistry Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD, USA., Byrnes C; Genetics of Development and Disease Section, Genetics and Biochemistry Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD, USA., Li C; Genetics of Development and Disease Section, Genetics and Biochemistry Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD, USA., Tuymetova G; Genetics of Development and Disease Section, Genetics and Biochemistry Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD, USA., Bakir JY; Genetics of Development and Disease Section, Genetics and Biochemistry Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD, USA., Nicoli ER; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., James VK; Department of Chemistry, University of Texas at Austin, Austin, TX, USA., Brodbelt JS; Department of Chemistry, University of Texas at Austin, Austin, TX, USA., Tifft CJ; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA. Electronic address: cynthiat@mail.nih.gov., Proia RL; Genetics of Development and Disease Section, Genetics and Biochemistry Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD, USA. Electronic address: proia@nih.gov.
Publikováno v:
Journal of lipid research [J Lipid Res] 2023 Dec; Vol. 64 (12), pp. 100463. Date of Electronic Publication: 2023 Oct 21.
Autor:
Laur D; Department of Paediatric Neurology, Hôpital Robert-Debré, AP-HP, Paris, France., Pichard S; Reference Centre for Inborn Errors of Metabolism, Necker Enfants-Malades Hospital, AP-HP, Paris, France., Bekri S; Metabolic Biochemistry Department, Rouen University Hospital, Rouen, France.; Normandie Univ, UNIROUEN, CHU Rouen, INSERM U1245, Rouen, France., Caillaud C; Biochemistry, Metabolomic and Proteomic Department, INSERM UMRS 1151, Necker Enfants Malades, Paris, France., Froissart R; Service de Biochimie et Biologie Moléculaire, Centre de Biologie et de Pathologie Est, CHU de Lyon, Bron, France., Levade T; Laboratoire de Biochimie Métabolique, CHU de Toulouse, and INSERM UMR1037, CRCT (Cancer Research Center of Toulouse), Université Paul Sabatier, Toulouse, France., Roubertie A; Département de Neuropédiatrie, CIC, CHU de Montpellier, INM, Univ Montpellier, INSERM U1298, Montpellier, France., Desguerre I; Reference Center of Neuromuscular Disorders Nord/Est/Île-de-France, Pediatric Neurology Department, Necker-Enfants-Malades Hospital, AP-HP, Paris, France., Héron B; Centre de Référence des Maladies Lysosomales, Service de Neurologie Pédiatrique, Hôpital Armand Trousseau-La Roche Guyon, APHP, Fédération Hospitalo-Universitaire I2-D2 AP-HP.Sorbonne-Université, Paris, France., Auvin S; Université Paris-Cité, INSERM NeuroDiderot, Paris, France.; Institut Universitaire de France (IUF), Paris, France.
Publikováno v:
Journal of inherited metabolic disease [J Inherit Metab Dis] 2023 Sep; Vol. 46 (5), pp. 972-981. Date of Electronic Publication: 2023 Jul 11.
Autor:
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.
Publikováno v:
PloS one [PLoS One] 2023 Nov 29; Vol. 18 (11), pp. e0294437. Date of Electronic Publication: 2023 Nov 29 (Print Publication: 2023).
Autor:
Herbst ZM; Department of Chemistry, University of Washington, Seattle, WA 98195, USA. Electronic address: zherbst@uw.edu., Hong X; Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA. Electronic address: hongx@chop.edu., Urdaneta L; National MPS Society, P.O. Box 14686, Durham, NC 27709-4686, USA. Electronic address: leslie@mpssociety.org., Klein T; National MPS Society, P.O. Box 14686, Durham, NC 27709-4686, USA. Electronic address: terri@mpssociety.org., Waggoner C; Cure GM1 Foundation, P.O. Box 6890, Albany, CA 94706, USA. Electronic address: christine@curegm1.org., Liao HC; Department of Laboratory Medicine and Pathology, University of Washington, Seattle, WA 98195, USA. Electronic address: liaohc6@uw.edu., Kubaski F; Greenwood Genetic Center, Biochemical Genetics Laboratory, Greenwood, SC 29646, USA. Electronic address: fkubaski@ggc.org., Giugliani R; Programa de Pós-Graduação em Genética e Biologia Molecular, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS, Brazil. Electronic address: rgiugliani@hcpa.edu.br., Fuller M; Genetics and Molecular Pathology, SA Pathology at Women's and Children's Hospital, Adelaide Medical School and School of Biological Sciences University of Adelaide, North Adelaide 5006, Australia. Electronic address: maria.fuller@adelaide.edu.au., Gelb MH; Department of Chemistry, University of Washington, Seattle, WA 98195, USA; Department of Biochemistry, University of Washington, Seattle, WA 98195, USA. Electronic address: gelb@uw.edu.
Publikováno v:
Molecular genetics and metabolism [Mol Genet Metab] 2023 Sep-Oct; Vol. 140 (1-2), pp. 107632. Date of Electronic Publication: 2023 Jun 24.