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1دورية أكاديمية
المؤلفون: Monika Williams, Iskren Menkovic, Pamela Reitnauer, Eileen Gilbert, Dwight Koeberl, Sarah P. Young, Ashlee R. Stiles
المصدر: Molecular Genetics and Metabolism Reports, Vol 38, Iss , Pp 101062- (2024)
مصطلحات موضوعية: Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency, Urine organic acids, Non-ketotic hypoglycemia, 4-hydroxy-6-methyl-2-pyrone, HMG-CoA synthase deficiency, Medicine (General), R5-920, Biology (General), QH301-705.5
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: Iskren Menkovic, James Beasley, Haoyue Zhang, Billie Lianoglou, Jingwei Yu, Ashlee Stiles, Paul Harmatz, Sarah Young
المصدر: Genetics in Medicine Open, Vol 1, Iss 1, Pp 100037- (2023)
وصف الملف: electronic resource
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3دورية أكاديمية
المؤلفون: Iskren Menkovic, Michel Boutin, Abdulfatah Alayoubi, Filipa Curado, Peter Bauer, François E. Mercier, Christiane Auray-Blais
المصدر: Diagnostics, Vol 12, Iss 6, p 1414 (2022)
مصطلحات موضوعية: Gaucher disease type 1, urine, biomarkers, glucosylsphingosine, lyso-Gb1, lyso-Gb1 analogs, Medicine (General), R5-920
وصف الملف: electronic resource
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4دورية أكاديمية
المؤلفون: Iskren Menkovic, Michel Boutin, Abdulfatah Alayoubi, François E. Mercier, Georges-Étienne Rivard, Christiane Auray-Blais
المصدر: International Journal of Molecular Sciences, Vol 21, Iss 21, p 7869 (2020)
مصطلحات موضوعية: Gaucher disease, metabolomics, mass spectrometry, glucosylsphingosine (lyso-Gb1), lyso-Gb1 analogs, N-palmitoyl-O-phosphocholineserine, Biology (General), QH301-705.5, Chemistry, QD1-999
وصف الملف: electronic resource
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5دورية أكاديمية
المؤلفون: Michel Boutin, Pamela Lavoie, Iskren Menkovic, Amanda Toupin, Mona Abaoui, Maha Elidrissi-Elawad, Marie-Françoise Arthus, Carole Fortier, Claudia Ménard, Bruno Maranda, Daniel G. Bichet, Christiane Auray-Blais
المصدر: International Journal of Molecular Sciences, Vol 21, Iss 17, p 6114 (2020)
مصطلحات موضوعية: Fabry disease, diurnal variation, globotriaosylceramide, globotriaosylsphingosine, mass spectrometry, glycosphingolipids, Biology (General), QH301-705.5, Chemistry, QD1-999
وصف الملف: electronic resource
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6دورية أكاديمية
المصدر: Diagnostics, Vol 9, Iss 4, p 195 (2019)
مصطلحات موضوعية: mucopolysaccharidosis (mps), newborn screening, heparan sulfate, dermatan sulfate, uplc-ms/ms, dried urine spots (dus), Medicine (General), R5-920
وصف الملف: electronic resource
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7
المؤلفون: Iskren Menkovic, Michel Boutin, Pamela Lavoie, Christiane Auray‐Blais
المصدر: Current Protocols. 3
مصطلحات موضوعية: Medical Laboratory Technology, General Immunology and Microbiology, General Neuroscience, Health Informatics, General Pharmacology, Toxicology and Pharmaceutics, General Biochemistry, Genetics and Molecular Biology
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8
المؤلفون: Marcel A Kelkel, Michel Boutin, Filipa Curado, Peter Bauer, Éliane Beauregard-Lacroix, François E Mercier, Bruno Maranda, Iskren Menkovic, Tristan Martineau, Christiane Auray-Blais
المصدر: Bioanalysis. 14:289-306
مصطلحات موضوعية: Sphingolipids, Medical Laboratory Technology, Tandem Mass Spectrometry, Solid Phase Extraction, Clinical Biochemistry, Humans, General Medicine, General Pharmacology, Toxicology and Pharmaceutics, Lysosomes, Chromatography, High Pressure Liquid, Chromatography, Liquid, Analytical Chemistry
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9
المؤلفون: Christiane Auray-Blais, Iskren Menkovic, Michel Boutin, Pamela Lavoie
المصدر: Molecular Genetics and Metabolism. 138:107015
مصطلحات موضوعية: Endocrinology, Endocrinology, Diabetes and Metabolism, Genetics, Molecular Biology, Biochemistry
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10
المؤلفون: Iskren Menkovic, Michel Boutin, Abdulfatah Alayoubi, Filipa Curado, Peter Bauer, François E. Mercier, Christiane Auray-Blais
المصدر: Journal of proteome research. 21(5)
مصطلحات موضوعية: Gaucher Disease, Humans, Metabolomics, General Chemistry, Prognosis, Biochemistry, Biomarkers, Mass Spectrometry