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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: Matthew M. Gayed, Seung-Hye Jung, Erin Huggins, Eleanor Rodriguez-Rassi, Stephanie DeArmey, Priya Sunil Kishnani, Ashlee R. Stiles
المصدر: International Journal of Molecular Sciences, Vol 23, Iss 23, p 14938 (2022)
مصطلحات موضوعية: glucosylsphingosine, lyso-Gb1, chitotriosidase, Gaucher disease, biomarkers, long-term treatment, Biology (General), QH301-705.5, Chemistry, QD1-999
وصف الملف: electronic resource
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3دورية أكاديمية
المؤلفون: Ashlee R. Stiles, Erin Huggins, Luca Fierro, Seung-Hye Jung, Manisha Balwani, Priya S. Kishnani
المصدر: Molecular Genetics and Metabolism Reports, Vol 27, Iss , Pp 100729- (2021)
مصطلحات موضوعية: Glucosylsphingosine, Lyso-Gb1, Type 1 Gaucher disease, Pediatric, p.N409S, Monitoring, Medicine (General), R5-920, Biology (General), QH301-705.5
وصف الملف: electronic resource
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4دورية أكاديمية
المصدر: Journal of Lipid Research, Vol 53, Iss 7, Pp 1399-1409 (2012)
مصطلحات موضوعية: cholesterol/biosynthesis, cholesterol/metabolism, lipidomics, mass spectrometry, oxysterols, steroid hormones, Biochemistry, QD415-436
وصف الملف: electronic resource
Relation: http://www.sciencedirect.com/science/article/pii/S002222752034517X; https://doaj.org/toc/0022-2275
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5
المؤلفون: Mercedes Barzi, Collin G. Johnson, Tong Chen, Ramona M. Rodriguiz, Madeline Hemmingsen, Trevor J. Gonzalez, Alan Rosales, James Beasley, Cheryl K. Peck, Yunhan Ma, Ashlee R. Stiles, Timothy C. Wood, Raquel Maeso-Diaz, Anna Mae Diehl, Sarah P. Young, Jeffrey I. Everitt, William C. Wetsel, William R. Lagor, Beatrice Bissig-Choisat, Aravind Asokan, Areeg El-Gharbawy, Karl-Dimiter Bissig
المصدر: Science Translational Medicine. 15
مصطلحات موضوعية: General Medicine
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::6292b3afa1d99bc596935998eb4e4b9b
https://doi.org/10.1126/scitranslmed.adf4086 -
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المؤلفون: Marwan K, Tayeh, Margaret, Chen, Stephanie M, Fullerton, Patrick R, Gonzales, Samuel J, Huang, Lauren J, Massingham, Julianne M, O'Daniel, Douglas R, Stewart, Ashlee R, Stiles, Barbara J, Evans
المصدر: Genetics in Medicine. 25:100342
مصطلحات موضوعية: Genetics (clinical)
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::191a802c78a5d2a0daf5e37ece087ae6
https://doi.org/10.1016/j.gim.2022.11.010 -
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المؤلفون: Mercedes Barzi, Collin Johnson, Tong Chen, Ramona Rodriguiz, Madeline Hemmingsen, Trevor J. Gonzalez, Alan Rosales, James Beasley, Yunhan Ma, Ashlee R. Stiles, Timothy C. Wood, Raquel Maeso-Diaz, Ana Mae Diehl, Sarah P. Young, Jeffrey I. Everitt, William C. Wetsel, Beatrice Bissig-Choisat, Aravind Asokan, Areeg El-Gharbawy, Karl-Dimiter Bissig
المصدر: Molecular Genetics and Metabolism. 138:107377
مصطلحات موضوعية: Endocrinology, Endocrinology, Diabetes and Metabolism, Genetics, Molecular Biology, Biochemistry
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8
المؤلفون: Luca Fierro, Ashlee R. Stiles, Manisha Balwani, Priya S. Kishnani, Seung-Hye Jung, Erin Huggins
المصدر: Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports, Vol 27, Iss, Pp 100729-(2021)مصطلحات موضوعية: Oncology, Medicine (General), medicine.medical_specialty, Treatment response, Monitoring, QH301-705.5, Case Report, Disease, Lyso-Gb1, 03 medical and health sciences, R5-920, 0302 clinical medicine, Endocrinology, Internal medicine, Genetics, medicine, Biology (General), Family history, Molecular Biology, Pediatric, 0303 health sciences, Type 1 Gaucher disease, business.industry, 030305 genetics & heredity, Disease progression, Type 1 Gaucher Disease, p.N409S, Glucosylsphingosine, Biomarker (medicine), Treatment decision making, business, 030217 neurology & neurosurgery
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المؤلفون: Haoyue Zhang, Sarah P. Young, Patricia McCaw, Ashlee R. Stiles, James Beasley
المصدر: Clinica chimica acta; international journal of clinical chemistry. 511
مصطلحات موضوعية: 0301 basic medicine, Clinical Biochemistry, Biochemistry, High-performance liquid chromatography, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Tandem Mass Spectrometry, medicine, Humans, In patient, Combined method, Chromatography, High Pressure Liquid, Sphingolipids, Chromatography, Chemistry, Hydrophilic interaction chromatography, Biochemistry (medical), Psychosine, General Medicine, Glycosphingolipid, respiratory system, medicine.disease, Fabry disease, 030104 developmental biology, 030220 oncology & carcinogenesis, Fabry Disease, lipids (amino acids, peptides, and proteins), Uplc ms ms, Glycolipids, Biomarkers, Chromatography, Liquid
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المؤلفون: Priya S. Kishnani, Ashlee R. Stiles, Haoyue Zhang, Deeksha Bali, Sarah P. Young, Roberto Mendez, Cindy Li, Janet Blount, Catherine Rehder
المصدر: Molecular Genetics and Metabolism. 132:S11-S12
مصطلحات موضوعية: medicine.medical_specialty, business.industry, Endocrinology, Diabetes and Metabolism, Period (gene), Urinary system, Disease, Glucose tetrasaccharide, Biochemistry, Phenotype, Endocrinology, Internal medicine, Genetics, medicine, business, Molecular Biology