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1دورية أكاديمية
المؤلفون: Hui Dong, Xue Ma, Zhehui Chen, Huiting Zhang, Jinqing Song, Ying Jin, Mengqiu Li, Mei Lu, Ruxuan He, Yao Zhang, Yanling Yang
المصدر: BMC Medical Genomics, Vol 17, Iss 1, Pp 1-10 (2024)
مصطلحات موضوعية: Succinic semialdehyde dehydrogenase deficiency, 4-hydroxybutyric acid, Γ-aminobutyric acid, ALDH5A1 gene, Novel variants, Internal medicine, RC31-1245, Genetics, QH426-470
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1755-8794
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2دورية أكاديمية
المؤلفون: Kevin E. Glinton, Charul Gijavanekar, Abbhirami Rajagopal, Laura P. Mackay, Kirt A. Martin, Phillip L. Pearl, K. Michael Gibson, Theresa A. Wilson, V. Reid Sutton, Sarah H. Elsea
المصدر: Frontiers in Genetics, Vol 15 (2024)
مصطلحات موضوعية: SSADHD (succinic semialdehyde dehydrogenase deficiency), succinic semialdehyde dehydrogenase, GABA catabolism, ALDH5A1, GHB (4-hydroxybutyric acid), 2-pyrrolidinone, Genetics, QH426-470
وصف الملف: electronic resource
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3دورية أكاديمية
المؤلفون: J. Flowers, G. Veneziano, G. Cambier, J. D. Tobias
المصدر: Pediatric Anesthesia and Critical Care Journal (PACCJ), Vol 12, Iss 1, Pp 1-5 (2024)
مصطلحات موضوعية: succinic semialdehyde dehydrogenase deficiency, gamma-aminobutyric acid, pediatric anesthesiology, sei- zures, Pediatrics, RJ1-570, Anesthesiology, RD78.3-87.3
وصف الملف: electronic resource
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4دورية أكاديمية
المؤلفون: Parezanović M, Ilić N, Ostojić S, Stevanović G, Ječmenica J, Maver A, Sarajlija A
المصدر: Balkan Journal of Medical Genetics, Vol 26, Iss 1, Pp 63-68 (2023)
مصطلحات موضوعية: aldh5a1, cookie-bite audiogram, gamma-aminobutyric acid, sensorineural hearing loss, succinic semialdehyde dehydrogenase deficiency, Genetics, QH426-470
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2199-5761
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5دورية أكاديمية
المؤلفون: Dong, Hui, Ma, Xue, Chen, Zhehui, Zhang, Huiting, Song, Jinqing, Jin, Ying, Li, Mengqiu, Lu, Mei, He, Ruxuan, Zhang, YaoAff1, IDs12920024019254_cor10, Yang, YanlingAff1, IDs12920024019254_cor11
المصدر: BMC Medical Genomics. 17(1)
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6دورية أكاديمية
المؤلفون: Gavrilovici, Cezar, Rho, Jong M
المصدر: Journal of Inherited Metabolic Disease. 44(1)
مصطلحات موضوعية: Epilepsy, Neurosciences, Complementary and Integrative Health, Neurodegenerative, Brain Disorders, Rare Diseases, Pediatric, Nutrition, Aetiology, 2.1 Biological and endogenous factors, Amino Acid Metabolism, Inborn Errors, Animals, Contraindications, Diet, Ketogenic, Energy Metabolism, Humans, Ketone Bodies, Treatment Outcome, epilepsy, glucose transporter deficiency, ketogenic diet, ketone bodies, mechanisms, mitochondria, nonketotic hyperglycinemia, pyruvate dehydrogenase deficiency, succinic semialdehyde dehydrogenase deficiency, Clinical Sciences, Genetics & Heredity
URL الوصول: https://escholarship.org/uc/item/5m79p86x
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7دورية أكاديمية
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8دورية أكاديمية
المؤلفون: Malak Ali Alghamdi, Waleed H. Alkhamis, Dima Z. Jamjoom, Reem Al Khalifah, Nawaf Rahi Alshammari, Khalid Alsumaili, Stefan T. Arold
المصدر: Clinical Case Reports, Vol 9, Iss 1, Pp 229-235 (2021)
مصطلحات موضوعية: ALDH5A1, central hypothyroidism, developmental delay, succinic semialdehyde dehydrogenase deficiency, Medicine, Medicine (General), R5-920
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2050-0904
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9دورية أكاديمية
المؤلفون: Madalyn Brown, Coleman Turgeon, Piero Rinaldo, Ana Pop, Gajja S. Salomons, Jean‐Baptiste Roullet, K. Michael Gibson
المصدر: JIMD Reports, Vol 53, Iss 1, Pp 29-38 (2020)
مصطلحات موضوعية: acylcarnitines, amino acids, creatine, dried bloodspots, newborn screening, succinic semialdehyde dehydrogenase deficiency, 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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10دورية أكاديمية
المؤلفون: Sangeetha Yoganathan, Gautham Arunachal, Lisa Kratz, Mugil Varman, Maya Thomas, Sniya Valsa Sudhakar, Samuel Philip Oommen, Sumita Danda
المصدر: Annals of Indian Academy of Neurology, Vol 23, Iss 1, Pp 113-117 (2020)
مصطلحات موضوعية: 4-hydroxybutyric acid, aldehyde dehydrogenase 5 family, member a1 gene, succinic semialdehyde dehydrogenase deficiency, stroke mimic, vigabatrin, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource