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1دورية أكاديميةWhole exome sequencing reveals a dual diagnosis of BCAP31-related syndrome and glutaric aciduria III
المؤلفون: Erin Huggins, David G. Jackson, Sarah P. Young, Priya S. Kishnani
المصدر: Molecular Genetics and Metabolism Reports, Vol 40, Iss , Pp 101117- (2024)
مصطلحات موضوعية: Biochemical genetics, X-linked intellectual disability, Rare disease, Diagnostic odyssey, Glutaric aciduria type III, Dual diagnosis, Medicine (General), R5-920, Biology (General), QH301-705.5
وصف الملف: electronic resource
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2دورية 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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3دورية أكاديمية
المؤلفون: Pascale Tuyaa-Boustugue, Ingrid Jantzen, Haoyue Zhang, Sarah P. Young, Pierre Broqua, Mireille Tallandier, Eugeni Entchev
المصدر: Molecular Genetics and Metabolism Reports, Vol 37, Iss , Pp 101011- (2023)
مصطلحات موضوعية: Mucopolysaccharidosis type VI, Mucopolysaccharidosis type I, Lysosome, Odiparcil, MPS VI therapy, MPS I therapy, Medicine (General), R5-920, Biology (General), QH301-705.5
وصف الملف: electronic resource
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4دورية أكاديمية
المؤلفون: Sarah P. Young, Aleena Khan, Ela Stefanescu, Andrea M. Seifts, Ghada Hijazi, Stephanie Austin, Priya S. Kishnani
المصدر: JIMD Reports, Vol 58, Iss 1, Pp 37-43 (2021)
مصطلحات موضوعية: 24‐hour urine, biomarker, Glc4, glucose tetrasaccharide, glycogen storage disease type III, Hex4, Diseases of the endocrine glands. Clinical endocrinology, RC648-665, Genetics, QH426-470
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2192-8312
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5دورية أكاديمية
المؤلفون: Ghada Hijazi, Anna Paschall, Sarah P. Young, Brian Smith, Laura E. Case, Tracy Boggs, Sathya Amarasekara, Stephanie L. Austin, Surekha Pendyal, Areeg El-Gharbawy, Kristen L. Deak, Andrew J. Muir, Priya S. Kishnani
المصدر: Molecular Genetics and Metabolism Reports, Vol 29, Iss , Pp 100821- (2021)
مصطلحات موضوعية: Glycogen storage disease type III (GSD III), Hypoglycemia, Cirrhosis, Left ventricular hypertrophy (LVH), Cardiomyopathy, and myopathy, Medicine (General), R5-920, Biology (General), QH301-705.5
وصف الملف: electronic resource
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6دورية أكاديمية
المؤلفون: Carla Nasca, Olivia Barnhill, Paolo DeAngelis, Kathleen Watson, Jue Lin, James Beasley, Sarah P. Young, Alison Myoraku, Josh Dobbin, Benedetta Bigio, Bruce McEwen, Natalie Rasgon
المصدر: Neurobiology of Stress, Vol 15, Iss , Pp 100407- (2021)
مصطلحات موضوعية: Acetylcarnitine, Metabolism, Stress, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571, Neurology. Diseases of the nervous system, RC346-429, Neurophysiology and neuropsychology, QP351-495
وصف الملف: electronic resource
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7دورية أكاديمية
المؤلفون: Sang-oh Han, Songtao Li, Angela McCall, Benjamin Arnson, Jeffrey I. Everitt, Haoyue Zhang, Sarah P. Young, Mai K. ElMallah, Dwight D. Koeberl
المصدر: Molecular Therapy: Methods & Clinical Development, Vol 17, Iss , Pp 133-142 (2020)
مصطلحات موضوعية: Pompe disease, glycogen storage disease, adeno-associated virus vector, infantile, Genetics, QH426-470, Cytology, QH573-671
وصف الملف: electronic resource
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8دورية أكاديمية
المؤلفون: Hye-Ri Kang, Lauren Waskowicz, Andrea M. Seifts, Dustin J. Landau, Sarah P. Young, Dwight D. Koeberl
المصدر: Molecular Therapy: Methods & Clinical Development, Vol 13, Iss , Pp 265-273 (2019)
وصف الملف: electronic resource
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9دورية أكاديمية
المؤلفون: Bruce D. McDonald III (ORCID
0000-0001-8963-8606 ), William Hatcher (ORCID0000-0002-9758-9135 ), Hunter Bacot (ORCID0000-0001-7507-2154 ), Michelle D. Evans (ORCID0000-0003-3795-0168 ), Sean A. McCandless (ORCID0000-0003-1820-7467 ), Lindsey M. McDougle (ORCID0000-0003-1548-2762 ), Sarah L. Young (ORCID0000-0001-6223-2737 ), Ian C. Elliott (ORCID0000-0003-4622-298X ), Rachel Emas (ORCID0000-0002-5683-9599 ), Elaine Yi Lu (ORCID0000-0002-1162-4623 ), Michaela E. Abbott (ORCID0000-0002-8222-2306 ), Domonic A. Bearfield (ORCID0000-0001-8845-1268 ), RaJade M. Berry-James (ORCID0000-0002-4401-9702 ), Brandi Blessett (ORCID0000-0002-6471-1317 ), Erin L. Borry (ORCID0000-0001-5346-2426 ), John Diamond, Amiee L. Franklin (ORCID0000-0003-0147-3857 ), Tia Sheree Gaynor (ORCID0000-0002-7712-6256 ), Ting Gong (ORCID0000-0001-9927-886X ), Doug Goodman (ORCID0000-0002-7044-7284 ), Mary E. Guy (ORCID0000-0001-9193-8798 ), Jeremy L. Hall, Megan Hatch (ORCID0000-0001-5201-4066 ), Myung H. Jin, Meagan M. Jordan (ORCID0000-0002-1574-5238 ), Jamie Levine Daniel (ORCID0000-0003-4009-0437 ), Jeannine M. Love (ORCID0000-0001-8610-3657 ), Craig S. Maher (ORCID0000-0001-5562-3473 ), Charles Menifield (ORCID0000-0002-8506-8973 ), Janine O'Flynn (ORCID0000-0002-5565-5923 ), Rosemary O'Leary (ORCID0000-0002-8300-8563 ), Peng Liu, Cristian Pliscoff (ORCID0000-0002-6918-4587 ), Gabriel Puron-Cid (ORCID0000-0002-6272-7374 ), Sara R. Rinfret (ORCID0000-0002-5093-304X ), Jessica E. Sowa (ORCID0000-0002-4636-151X ), Edmund C. Stazyk (ORCID0000-0001-8269-8956 ), Kendra Stewart (ORCID0000-0001-6874-2981 ), Ador R. Torneo (ORCID0000-0002-6748-6987 ), Kimberly K. Wiley (ORCID0000-0002-5921-5837 ), Yahong Zhang (ORCID0000-0003-0580-174X )المصدر: Journal of Public Affairs Education. 2024 30(1):11-27.
Peer Reviewed: Y
Page Count: 17
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10دورية أكاديمية
المؤلفون: Mari Mori, Jennifer Goldstein, Sarah P. Young, Edward H. Bossen, John Shoffner, Dwight D. Koeberl
المصدر: Molecular Genetics and Metabolism Reports, Vol 4, Iss C, Pp 39-41 (2015)
مصطلحات موضوعية: Mitochondrial myopathy, Cytochrome b, Complex III deficiency, Ketotic hypoglycemia, Carnitine deficiency, Medicine (General), R5-920, Biology (General), QH301-705.5
وصف الملف: electronic resource