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1دورية أكاديمية
المؤلفون: Mats I Nilsson, Lauren G Macneil, Yu Kitaoka, Fatimah Alqarni, Rahul Suri, Mahmood Akhtar, Maria E Haikalis, Pavneet Dhaliwal, Munim Saeed, Mark A Tarnopolsky
المصدر: PLoS ONE, Vol 9, Iss 7, p e102549 (2014)
وصف الملف: electronic resource
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2دورية أكاديمية
المصدر: PLoS ONE, Vol 9, Iss 10, p e109189 (2014)
وصف الملف: electronic resource
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3دورية أكاديمية
المؤلفون: Justin D Crane, Arkan Abadi, Bart P Hettinga, Daniel I Ogborn, Lauren G MacNeil, Gregory R Steinberg, Mark A Tarnopolsky
المصدر: PLoS ONE, Vol 8, Iss 12, p e81879 (2013)
وصف الملف: electronic resource
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4دورية أكاديمية
المصدر: PLoS ONE, Vol 5, Iss 5, p e10695 (2010)
وصف الملف: electronic resource
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5
المؤلفون: Saadet Mercimek-Andrews, Stacy Hewson, David Chitayat, Elena Kolomietz, Neal Sondheimer, Nicholas A. Watkins, Abdul Noor, Eric K. Morgen, Andreas Schulze, Ruth Godoy, Carlo Hojilla, Susan Blaser, Tim Van Mieghem, Maian Roifman, Kirsten M. Niles, Johannes Häberle, Adi Ovadia, Lauren G. MacNeil, Greg Ryan, Patrick Shannon, Gareth Seaward
المساهمون: University of Zurich, Roifman, Maian
مصطلحات موضوعية: 0301 basic medicine, Adult, Male, 2716 Genetics (clinical), Glutamine, 610 Medicine & health, 030105 genetics & heredity, Biology, 03 medical and health sciences, Fetus, Metabolic Diseases, 1311 Genetics, Glutamate-Ammonia Ligase, Glutamine synthetase, Genetics, medicine, Missense mutation, Humans, Gene, Amino Acid Metabolism, Inborn Errors, Genetics (clinical), Homozygote, Infant, Newborn, RNASEL Gene, Hyperammonemia, medicine.disease, Phenotype, 030104 developmental biology, Inborn error of metabolism, 10036 Medical Clinic, Female
وصف الملف: ZORA197316.pdf - application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b099e3a7cdc5263e5ea91e5f540d0c00
https://www.zora.uzh.ch/id/eprint/197316/ -
6
المؤلفون: Lauren G. MacNeil, Mark A. Tarnopolsky, Justin D. Crane
المصدر: J Gerontol A Biol Sci Med Sci
مصطلحات موضوعية: 0301 basic medicine, Adult, Male, Vascular Endothelial Growth Factor A, Chemokine, Aging, THE JOURNAL OF GERONTOLOGY: Biological Sciences, medicine.medical_treatment, Physiology, Inflammation, Disease, 030204 cardiovascular system & hematology, Proinflammatory cytokine, 03 medical and health sciences, Basal (phylogenetics), Young Adult, 0302 clinical medicine, medicine, Humans, Interleukin 6, Exercise, Sedentary lifestyle, Aged, Aged, 80 and over, Platelet-Derived Growth Factor, biology, Epidermal Growth Factor, business.industry, Middle Aged, 030104 developmental biology, Cytokine, biology.protein, Cytokines, Female, Geriatrics and Gerontology, medicine.symptom, Chemokines, Sedentary Behavior, business
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::64921f247fef82504a22463bfba8dbf9
https://pubmed.ncbi.nlm.nih.gov/33289019 -
7
المؤلفون: Suzanne Laughlin, Susan Blaser, Grace Yoon, Murray A. Potter, Lauren G. MacNeil, Fady Hannah-Shmouni, Rebekah Jobling, Michal Inbar-Feigenberg
المصدر: Molecular Genetics and Metabolism Reports, Vol 18, Iss, Pp 11-13 (2019)
Molecular Genetics and Metabolism Reportsمصطلحات موضوعية: Pathology, medicine.medical_specialty, Homocysteine, Case Report, Inborn errors of metabolism, White matter, Cystic, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Endocrinology, Molybdenum cofactor deficiency, Genetics, medicine, Encephalomalacia, lcsh:QH301-705.5, Molecular Biology, Exome sequencing, Hypoxic ischemic, lcsh:R5-920, 0303 health sciences, business.industry, 030305 genetics & heredity, medicine.disease, CYSTIC DEGENERATION, medicine.anatomical_structure, lcsh:Biology (General), chemistry, Brain MRI, lcsh:Medicine (General), business, 030217 neurology & neurosurgery, Intractable seizures
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8
المؤلفون: Mats I. Nilsson, Jan J. Kaczor, N.J. Nates, Mark A. Tarnopolsky, M.U. Ansari, Rahul Suri, M. Ahktar, Lauren G. MacNeil, Bart P. Hettinga, Sarah P. Young, L. Brandt, T. Wong, Yu Kitaoka
المصدر: Free Radical Biology and Medicine. 87:98-112
مصطلحات موضوعية: Senescence, Pharmacology, Mitochondrion, Biochemistry, Lipofuscin, Mice, Physiology (medical), Sequestosome-1 Protein, Glycogen storage disease type II, Autophagy, medicine, Animals, Humans, Enzyme Replacement Therapy, Exercise, Heat-Shock Proteins, Adaptor Proteins, Signal Transducing, Glycogen Storage Disease Type II, Chemistry, alpha-Glucosidases, Enzyme replacement therapy, medicine.disease, Mitochondria, Disease Models, Animal, Mitochondrial biogenesis, Endosomal transport, Lysosomes, Waste disposal
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9
المؤلفون: Fady Hannah-Shmouni, Lauren G. MacNeil, Elena Pope, Irene Lara-Corrales, Neal Sondheimer, Peter Kannu
المصدر: Molecular Genetics and Metabolism Reports, Vol 21, Iss, Pp-(2019)
Molecular Genetics and Metabolism Reportsمصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, media_common.quotation_subject, Hyperkeratosis, Case Report, PPK, Palmoplantar keratoderma, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, Genetics, medicine, Dietary therapy, Girl, skin and connective tissue diseases, lcsh:QH301-705.5, Molecular Biology, Exome, Exome sequencing, media_common, Tyrosinemia type II, lcsh:R5-920, 0303 health sciences, business.industry, 030305 genetics & heredity, medicine.disease, Dermatology, Palmoplantar keratoderma, lcsh:Biology (General), lcsh:Medicine (General), business, 030217 neurology & neurosurgery
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10
المؤلفون: Lauren Brady, Lauren G. MacNeil, Mark A. Tarnopolsky
المصدر: Mitochondrion. 47
مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Mitochondrial DNA, Weakness, Ataxia, RNA, Mitochondrial, Biology, DNA, Mitochondrial, 03 medical and health sciences, 0302 clinical medicine, Mitochondrial myopathy, Ptosis, Internal medicine, Myasthenia Gravis, medicine, Humans, Point Mutation, Child, Molecular Biology, RNA, Transfer, Asn, Cell Biology, medicine.disease, Heteroplasmy, Myasthenia gravis, Mitochondria, Muscle, 030104 developmental biology, Endocrinology, Failure to thrive, Molecular Medicine, Female, medicine.symptom, 030217 neurology & neurosurgery