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1دورية أكاديمية
المؤلفون: Nicole K Polinski, Terina N Martinez, Alexander Gorodinsky, Ralph Gareus, Michael Sasner, Mark Herberth, Robert Switzer, Syed O Ahmad, Mali Cosden, Monika Kandebo, Robert E Drolet, Peter D Buckett, Weisong Shan, Yi Chen, Lee J Pellegrino, Gregory D Ellsworth, Leo B Dungan, Warren D Hirst, Sean W Clark, Kuldip D Dave
المصدر: PLoS ONE, Vol 16, Iss 6, p e0252325 (2021)
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1932-6203
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2
المؤلفون: Anadina Garcia, Anthony Perry, Yi Lun, Lukas Martin, Leo B. Dungan, Jin-Song Shen, Yi Shuan Wu, Virginia D. Schmith, Franklin K. Johnson, Raphael Schiffmann, Richie Khanna, Rick Hamler, Anibh M. Das, Pai-Chi Tsai
المصدر: Clinical Pharmacology in Drug Development
مصطلحات موضوعية: Adult, Male, Physiologically based pharmacokinetic modelling, Biodistribution, 1-Deoxynojirimycin, migalastat, Pharmaceutical Science, Original Manuscript, Mice, Transgenic, Spleen, Pharmacology, Models, Biological, 030226 pharmacology & pharmacy, Mice, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Species Specificity, Pharmacokinetics, Migalastat, Animals, Humans, Medicine, Tissue Distribution, Pharmacology (medical), biodistribution, Mice, Knockout, Fabry disease, business.industry, Articles, Enzyme replacement therapy, Middle Aged, medicine.disease, Small intestine, pharmacological chaperone, Isoenzymes, Mice, Inbred C57BL, medicine.anatomical_structure, alpha-Galactosidase, 030220 oncology & carcinogenesis, agalsidase beta, physiologically based pharmacokinetic modeling, Female, business, pharmacokinetics
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3
المؤلفون: Lee Pellegrino, Monika Kandebo, Nicole K. Polinski, Mark Herberth, Leo B. Dungan, Robert Switzer, Gregory D. Ellsworth, Sean W. Clark, Alexander Gorodinsky, Robert E. Drolet, Peter D. Buckett, Mali Cosden, Michael Sasner, Ralph Gareus, Syed Omar Ahmad, Weisong Shan, Terina N. Martinez, Kuldip D. Dave, Warren D. Hirst, Yi Chen
المصدر: PLoS ONE
PLoS ONE, Vol 16, Iss 6, p e0252325 (2021)مصطلحات موضوعية: Male, Heredity, medicine.disease_cause, Hippocampus, Homozygosity, chemistry.chemical_compound, Mice, Medical Conditions, Medicine and Health Sciences, Gene Knock-In Techniques, Mutation, Multidisciplinary, Movement Disorders, Heterozygosity, Brain, Neurodegenerative Diseases, Parkinson Disease, Glycosphingolipid, Animal Models, Phenotype, Cell biology, Experimental Organism Systems, Neurology, Liver, Medicine, Glucosylceramidase, Female, medicine.symptom, Cellular Structures and Organelles, Anatomy, medicine.drug, Research Article, Science, Immunoblotting, Inflammation, Substantia nigra, Mouse Models, Mice, Transgenic, Biology, Research and Analysis Methods, Glycosphingolipids, Model Organisms, Parkinsonian Disorders, Dopamine, medicine, Genetics, Point Mutation, Animals, Gene, Point mutation, Biology and Life Sciences, Cell Biology, Mice, Inbred C57BL, chemistry, Animal Studies, Lysosomes
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4
المؤلفون: Leo B. Dungan, Hui H. Chang, Sean W. Clark, Nastry Brignol, Michelle Frascella, Kenneth J. Valenzano, Richie Khanna, Elfrida R. Benjamin, Robert Boyd, Rick Hamler, Sean Morrison
المصدر: Analytical Chemistry. 89:8288-8295
مصطلحات موضوعية: 0301 basic medicine, Brain tissue, Neuronopathic Gaucher Disease, Glucosylceramides, Tandem mass spectrometry, Significant elevation, Analytical Chemistry, 03 medical and health sciences, Tandem Mass Spectrometry, In vivo, Liquid chromatography–mass spectrometry, Animals, chemistry.chemical_classification, Gaucher Disease, Chemistry, beta-Glucosidase, Psychosine, Brain, Mice, Inbred C57BL, Chromatographic separation, 030104 developmental biology, Enzyme, Biochemistry, Glucosylceramidase, Biomarkers, Chromatography, Liquid
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5
المؤلفون: Yi Lun, John J. Flanagan, Nastry Brignol, Michelle Frascella, David J. Lockhart, Darlene Guillen, Adriane Schilling, Jessie Feng, Kenneth J. Valenzano, Brandy L. Young, Richie Khanna, Elfrida R. Benjamin, Lee Pellegrino, Brian Ranes, Leo B. Dungan, Rebecca Soska
المصدر: Molecular Therapy
مصطلحات موضوعية: Blotting, Western, Globotriaosylceramide, Fluorescent Antibody Technique, Pharmacology, law.invention, Mice, chemistry.chemical_compound, law, Drug Discovery, medicine, Genetics, Animals, Humans, Enzyme Replacement Therapy, Molecular Biology, Alpha-galactosidase, biology, Trihexosylceramides, Enzyme replacement therapy, medicine.disease, Fabry disease, Molecular biology, Recombinant Proteins, In vitro, Rats, Pharmacological chaperone, chemistry, alpha-Galactosidase, Knockout mouse, biology.protein, Recombinant DNA, Fabry Disease, Molecular Medicine, Original Article, Oligopeptides, medicine.drug
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6
المؤلفون: John J. Flanagan, Gary Lee, Brandon Wustman, Leo B. Dungan, David J. Lockhart, Anthony Stevens, Vernon Alford, Darlene Guillen, Hadis Williams, Evan Katz, Eric Sjoberg, Xiaoyang Wu, Carolyn Collins, Sam Gandy
المصدر: Alzheimer's & Dementia. 8
مصطلحات موضوعية: Genetics, Epidemiology, Health Policy, Dominant negative, Biology, Presenilin, Psychiatry and Mental health, Cellular and Molecular Neuroscience, Developmental Neuroscience, Familial Alzheimer's disease, Neurology (clinical), Geriatrics and Gerontology, Early onset, Cell based
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7
المؤلفون: Hadis Williams, Xiaoyang Wu, Vernon Alford, Leo B. Dungan, Richie Khanna, Anthony Stevens, Sam Gandy, Michelle Fascella, Nastry Brignol, Evan Katz, David J. Lockhart, Mark P. Mattson, Eric Sjoberg, Anadina Garcia, Brandon Wustman, Mohammed Mughal, Carolyn Collins, Julia Zhu, Gary Lee
المصدر: Alzheimer's & Dementia. 8
مصطلحات موضوعية: Normalization (statistics), Epidemiology, Health Policy, Wild type, Biology, Presenilin, Psychiatry and Mental health, Cellular and Molecular Neuroscience, Developmental Neuroscience, Familial Alzheimer's disease, Cancer research, Neurology (clinical), Geriatrics and Gerontology, Function (biology), Gamma secretase, Early onset
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8
المؤلفون: David J. Lockhart, Leo B. Dungan, Hui H. Chang, Richie Khanna, Nastry Brignol, Kenneth J. Valenzano, Rick Hamler, Elfrida R. Benjamin, Su Xu, John J. Flanagan
المصدر: Molecular Genetics and Metabolism. 111:S38-S39
مصطلحات موضوعية: Endocrinology, Chromatography, Chemistry, Endocrinology, Diabetes and Metabolism, Genetics, Plasma, Tandem mass spectrometry, Molecular Biology, Biochemistry
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9
المؤلفون: Brandon W. Wustman, Kenneth J. Valenzano, Nastry Brignol, Leo B. Dungan, Richie Khanna, Sean Morrison, Robert Boyd, John Flanagan, Rick Hamler, David L. Lockhart, Sean W. Clark, Elfrida R. Benjamin, Chang H. Hui
المصدر: Molecular Genetics and Metabolism. 111:S52
مصطلحات موضوعية: medicine.medical_specialty, biology, Idursulfase, business.industry, Endocrinology, Diabetes and Metabolism, Nonsense mutation, Enzyme replacement therapy, Biochemistry, Gastroenterology, Titer, Exon, Endocrinology, Internal medicine, Genotype, Genetics, medicine, biology.protein, Missense mutation, Antibody, business, Molecular Biology, medicine.drug