المؤلفون: Ju Huang, Aneal Khan, Bryan C. Au, Dwayne L. Barber, Lucía López-Vásquez, Nicole L. Prokopishyn, Michel Boutin, Michael Rothe, Jack W. Rip, Mona Abaoui, Murtaza S. Nagree, Shaalee Dworski, Axel Schambach, Armand Keating, Michael L. West, John Klassen, Patricia V. Turner, Sandra Sirrs, C. Anthony Rupar, Christiane Auray-Blais, Ronan Foley, Jeffrey A. Medin

المصدر: Molecular Therapy: Methods & Clinical Development, Vol 5, Iss C, Pp 241-258 (2017)

مصطلحات موضوعية: lysosomal storage disease, α-galactosidase A, hematopoietic stem/progenitor cell, xenotransplantation, GMP production, Genetics, QH426-470, Cytology, QH573-671

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2329050117300682; https://doaj.org/toc/2329-0501

URL الوصول: https://doaj.org/article/72a85a8769b142ad9ecbd535f945b6c9

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; Volume 21; Issue 17; Pages: 6114

مصطلحات موضوعية: Fabry disease, diurnal variation, globotriaosylceramide, globotriaosylsphingosine, mass spectrometry, glycosphingolipids

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Molecular Pathology, Diagnostics, and Therapeutics; https://dx.doi.org/10.3390/ijms21176114

الاتاحة: https://doi.org/10.3390/ijms21176114

المؤلفون: Ayub Akbari, Adeera Levin, Fabrice Mac-Way, Pamela Lavoie, Joe T.R. Clarke, Michel Boutin, Anne-Marie Côté, Christiane Auray-Blais, Mona Abaoui

المصدر: Clinica Chimica Acta. 501:234-240

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Canada, medicine.medical_specialty, Adolescent, Urinary system, Clinical Biochemistry, Globotriaosylceramide, Disease, Biochemistry, Gastroenterology, Cohort Studies, Young Adult, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Risk Factors, Internal medicine, medicine, Humans, Renal Insufficiency, Chronic, Aged, Aged, 80 and over, Sphingolipids, Kidney, business.industry, Trihexosylceramides, Biochemistry (medical), General Medicine, Middle Aged, medicine.disease, Fabry disease, High-Throughput Screening Assays, 030104 developmental biology, medicine.anatomical_structure, chemistry, 030220 oncology & carcinogenesis, Cohort, Etiology, Fabry Disease, Female, Glycolipids, business, Kidney disease

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7c5c77b5aebe870e65113d77b2d7d8b8
https://doi.org/10.1016/j.cca.2019.10.045

المؤلفون: Pamela Lavoie, Mona Abaoui, Daniel G. Bichet, Marie-Françoise Arthus, Michel Boutin, Claudia Ménard, Amanda Toupin, Bruno Maranda, Christiane Auray-Blais, Maha Elidrissi-Elawad, Carole Fortier, Iskren Menkovic

المصدر: International Journal of Molecular Sciences
International Journal of Molecular Sciences, Vol 21, Iss 6114, p 6114 (2020)
Volume 21
Issue 17

مصطلحات موضوعية: Male, 0301 basic medicine, Urine, 01 natural sciences, lcsh:Chemistry, chemistry.chemical_compound, Infusions, Intravenous, lcsh:QH301-705.5, Spectroscopy, Morning, globotriaosylceramide, mass spectrometry, glycosphingolipids, Drug Chronotherapy, Trihexosylceramides, General Medicine, Enzyme replacement therapy, Circadian Rhythm, Computer Science Applications, Treatment Outcome, Biomarker (medicine), lipids (amino acids, peptides, and proteins), Female, Sample collection, hormones, hormone substitutes, and hormone antagonists, Adult, medicine.medical_specialty, Urinary system, Globotriaosylceramide, diurnal variation, Drug Administration Schedule, Catalysis, Article, Inorganic Chemistry, 03 medical and health sciences, Internal medicine, medicine, Humans, Enzyme Replacement Therapy, cardiovascular diseases, globotriaosylsphingosine, Physical and Theoretical Chemistry, Molecular Biology, Sphingolipids, Fabry disease, business.industry, 010401 analytical chemistry, Organic Chemistry, nutritional and metabolic diseases, medicine.disease, 0104 chemical sciences, 030104 developmental biology, Endocrinology, lcsh:Biology (General), lcsh:QD1-999, chemistry, Case-Control Studies, alpha-Galactosidase, Glycolipids, business, Biomarkers

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bbc284c630ed28407065521709b89d9e
http://europepmc.org/articles/PMC7503492

المؤلفون: Michel Boutin, Marie-Françoise Arthus, Pamela Lavoie, Carole Fortier, Christiane Auray-Blais, Mona Abaoui, Daniel G. Bichet, Claudia Ménard, Amanda Toupin

المصدر: Analytica Chimica Acta. 1015:35-49

مصطلحات موضوعية: 0301 basic medicine, Gene isoform, Globotriaosylceramide, Tandem mass spectrometry, medicine.disease, Biochemistry, Molecular biology, Fabry disease, Analytical Chemistry, 03 medical and health sciences, chemistry.chemical_compound, 030104 developmental biology, 0302 clinical medicine, chemistry, Liquid chromatography–mass spectrometry, Genotype, medicine, Environmental Chemistry, Biomarker (medicine), lipids (amino acids, peptides, and proteins), 030217 neurology & neurosurgery, Spectroscopy, Whole blood

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::eddb9a836772f1406c77919f0e73f291
https://doi.org/10.1016/j.aca.2018.02.022

المؤلفون: Michel Boutin, Mona Abaoui, Pamela Lavoie, Christiane Auray-Blais

المصدر: Clinica Chimica Acta. 452:191-198

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Gene isoform, Adolescent, Urinary system, Clinical Biochemistry, Globotriaosylceramide, Urine, Tandem mass spectrometry, Methylation, Biochemistry, Young Adult, 03 medical and health sciences, chemistry.chemical_compound, Tandem Mass Spectrometry, medicine, Humans, Protein Isoforms, Child, Aged, Sphingolipids, Creatinine, Molecular Structure, Chemistry, Trihexosylceramides, Biochemistry (medical), Infant, General Medicine, Middle Aged, medicine.disease, Fabry disease, Molecular biology, 3. Good health, 030104 developmental biology, Child, Preschool, Calibration, Fabry Disease, Biomarker (medicine), Female, Glycolipids

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::23a9074f47ea45a37ff21191c90a89a8
https://doi.org/10.1016/j.cca.2015.11.018

المؤلفون: Amanda, Toupin, Pamela, Lavoie, Marie-Françoise, Arthus, Mona, Abaoui, Michel, Boutin, Carole, Fortier, Claudia, Ménard, Daniel G, Bichet, Christiane, Auray-Blais

المصدر: Analytica chimica acta. 1015

مصطلحات موضوعية: Adult, Male, Young Adult, Tandem Mass Spectrometry, Trihexosylceramides, Leukocytes, Fabry Disease, Humans, Female, Middle Aged, Chromatography, High Pressure Liquid, Aged

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::22ea2040a3b4f292530392557d644dbc
https://pubmed.ncbi.nlm.nih.gov/29530250

المؤلفون: Christiane, Auray-Blais, Pamela, Lavoie, Michel, Boutin, Mona, Abaoui

المصدر: Current protocols in human geneticsLiterature Cited. 93

مصطلحات موضوعية: Male, Paper, Genotype, Tandem Mass Spectrometry, Trihexosylceramides, alpha-Galactosidase, Fabry Disease, Humans, Female, Postal Service, Filtration

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::9e699c2c3e58211707718a61ffa5ab18
https://pubmed.ncbi.nlm.nih.gov/28384397

المؤلفون: Michel Boutin, Mona Abaoui, Pamela Lavoie, Christiane Auray-Blais

المصدر: Current Protocols in Human Genetics

مصطلحات موضوعية: 0301 basic medicine, Alpha-galactosidase, biology, business.industry, Genetic heterogeneity, Urinary system, Incidence (epidemiology), Globotriaosylceramide, Physiology, Disease, Urine, medicine.disease, Fabry disease, 03 medical and health sciences, chemistry.chemical_compound, 030104 developmental biology, 0302 clinical medicine, chemistry, Genetics, biology.protein, Medicine, business, 030217 neurology & neurosurgery, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::8a30d9ede2074a1773bb59312cd8b366
https://doi.org/10.1002/cphg.34

المؤلفون: Mona Abaoui, Michel Boutin, Pamela Lavoie, Christiane Auray-Blais

المصدر: Meta Gene. 17:S11-S12

مصطلحات موضوعية: business.industry, Enzyme replacement therapy, Pharmacology, medicine.disease, Tandem mass spectrometry, Fabry disease, Dermatan sulfate, chemistry.chemical_compound, Metabolomics, chemistry, Genetics, Medicine, Biomarker (medicine), Chondroitin sulfate, business, Genetics (clinical), Mass screening

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::e1d108f1a1db12318dc657e6fb47f911
https://doi.org/10.1016/j.mgene.2018.05.050

المؤلفون: Mona, Abaoui, Michel, Boutin, Pamela, Lavoie, Christiane, Auray-Blais

المصدر: Current protocols in human genetics. 91

مصطلحات موضوعية: Male, Sphingolipids, Tandem Mass Spectrometry, Creatinine, Trihexosylceramides, Liquid-Liquid Extraction, Fabry Disease, Humans, Protein Isoforms, Female, Glycolipids, Methylation

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::8888d3d755bdb971dac4aeb33e0c0574
https://pubmed.ncbi.nlm.nih.gov/27727434

المؤلفون: Pamela Lavoie, Christiane Auray-Blais, Michel Boutin, Mona Abaoui

المصدر: Current Protocols in Human Genetics

مصطلحات موضوعية: 0301 basic medicine, Male, Globotriaosylceramide, Tandem mass spectrometry, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Liquid chromatography–mass spectrometry, Limit of Detection, Tandem Mass Spectrometry, Genetics, medicine, Humans, Solid phase extraction, Genetics (clinical), Chromatography, High Pressure Liquid, Detection limit, Sphingolipids, Chromatography, Sphingosine, Solid Phase Extraction, Reference Standards, medicine.disease, Fabry disease, Sphingolipid, 030104 developmental biology, chemistry, Fabry Disease, lipids (amino acids, peptides, and proteins), Glycolipids, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cdad3ab422ddb58c7e59fa1836926738
https://pubmed.ncbi.nlm.nih.gov/27367163

المؤلفون: Pamela Lavoie, Mona Abaoui, Christiane Auray-Blais, Michel Boutin

المصدر: Current Protocols in Human Genetics

مصطلحات موضوعية: Male, 0301 basic medicine, Urinary system, Globotriaosylceramide, Pharmacology, Tandem mass spectrometry, High-performance liquid chromatography, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Metabolomics, Tandem Mass Spectrometry, Genetics, Humans, Medicine, Multiplex, Chromatography, High Pressure Liquid, Genetics (clinical), Sphingolipids, business.industry, Solid Phase Extraction, Reference Standards, medicine.disease, Sphingolipid, Fabry disease, 030104 developmental biology, chemistry, Fabry Disease, Female, lipids (amino acids, peptides, and proteins), Glycolipids, business, Biomarkers, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d35d5b916ad1d6846bf374d70c60c6cf
https://doi.org/10.1002/cphg.1

المؤلفون: Anne-Marie Côté, Christiane Auray-Blais, Mona Abaoui, Ayub Akbari, Fabrice Mac-Way, Adeera Levin, Pamela Lavoie, Michel Boutin

المصدر: Molecular Genetics and Metabolism. 126:S92

مصطلحات موضوعية: medicine.medical_specialty, business.industry, Endocrinology, Diabetes and Metabolism, Urinary system, Globotriaosylceramide, Enzyme replacement therapy, Urine, medicine.disease, Biochemistry, Fabry disease, chemistry.chemical_compound, Endocrinology, Risk screening, chemistry, Internal medicine, Genetics, medicine, Etiology, business, Molecular Biology, Kidney disease

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::8b879f123869d5e930f2e26794d91a4b
https://doi.org/10.1016/j.ymgme.2018.12.228

المؤلفون: Mona Abaoui, Daniel G. Bichet, Pamela Lavoie, Christiane Auray-Blais, Carole Fortier, Michel Boutin, Marie-Françoise Arthus

المصدر: Molecular Genetics and Metabolism. 120:S23

مصطلحات موضوعية: Endocrinology, business.industry, Endocrinology, Diabetes and Metabolism, Diurnal temperature variation, Genetics, Medicine, Physiology, Enzyme replacement therapy, business, Molecular Biology, Biochemistry

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::5c9d6bb790169e2edfd71b6b588edc16
https://doi.org/10.1016/j.ymgme.2016.11.028

المؤلفون: Pamela Lavoie, Mona Abaoui, Christiane Auray-Blais, Michel Boutin

المصدر: Clinical Biochemistry. 47:140-141

مصطلحات موضوعية: Gene isoform, business.industry, Clinical Biochemistry, Medicine, Uplc ms ms, General Medicine, Biomarker Analysis, business, medicine.disease, Molecular biology, Fabry disease

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::3b6535017bfdf41c2ab5588ec8825c3a
https://doi.org/10.1016/j.clinbiochem.2014.07.048

المؤلفون: Mona Abaoui, Anne-Marie Côté, Bruno Maranda, Christiane Auray-Blais, Amanda Toupin, Pedro Geraldes, Pamela Lavoie, Michel Boutin

المصدر: Molecular Genetics and Metabolism. 117:S114

مصطلحات موضوعية: Endocrinology, Chromatography, Chemistry, Endocrinology, Diabetes and Metabolism, Genetics, medicine, Biomarker Analysis, Cell Fraction, medicine.disease, Tandem mass spectrometry, Molecular Biology, Biochemistry, Fabry disease

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::a17b92faa214e7ab733472dcaa0bbd83
https://doi.org/10.1016/j.ymgme.2015.12.466

المؤلفون: Mona Abaoui, Christiane Auray-Blais, Pamela Lavoie, Michel Boutin

المصدر: Molecular Genetics and Metabolism. 111:S15

مصطلحات موضوعية: Gene isoform, Chromatography, Chemistry, Endocrinology, Diabetes and Metabolism, Absolute quantification, Urine, medicine.disease, Biochemistry, Fabry disease, Endocrinology, Genetics, medicine, Molecular Biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::3eb010c03847da9666f9da9d3831bbd0
https://doi.org/10.1016/j.ymgme.2013.12.013