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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
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3دورية أكاديمية
المؤلفون: Tracey A. Conlon, Patricia E. Fitzsimons, Ingrid Borovickova, Fidelma Kirby, Sinéad Murphy, Ina Knerr, Ellen Crushell
المصدر: JIMD Reports, Vol 55, Iss 1, Pp 26-31 (2020)
مصطلحات موضوعية: 3‐hydroxyglutarate (3HG), 4‐hydroxy‐6‐methyl‐2‐pyrone (4HMP), HMG‐CoA synthase deficiency, hypertriglyceridemia, hypoglycemia, ketogenesis, 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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4كتاب إلكتروني
المؤلفون: Conboy, ErinAff13, Aff14, Vairo, FilippoAff14, Schultz, MatthewAff15, Agre, KatherineAff13, Aff14, Ridsdale, RossAff15, Deyle, DavidAff13, Aff14, Oglesbee, DevinAff13, Aff15, Gavrilov, DimitarAff13, Aff14, Aff15, Klee, Eric W.Aff14, Lanpher, BrendanAff13, Aff14
المساهمون: Baumgartner, Matthias, Series EditorAff1, Aff8, Patterson, Marc, Series EditorAff2, Aff9, Rahman, Shamima, Series EditorAff3, Aff10, Peters, Verena, Series EditorAff4, Aff12, Morava, Eva, Editor-in-ChiefAff5, Aff7, Zschocke, Johannes, Series EditorAff6, Aff11
المصدر: JIMD Reports, Volume 40. 40:63-69
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5دورية أكاديمية
المؤلفون: Tomoko Lee, Yuichi Takami, Kenji Yamada, Hironori Kobayashi, Yuki Hasegawa, Hideo Sasai, Hiroki Otsuka, Yasuhiro Takeshima, Toshiyuki Fukao
المصدر: JIMD Reports, Vol 48, Iss 1, Pp 19-25 (2019)
مصطلحات موضوعية: fatty liver, glutarate, HMG‐CoA synthase deficiency, ketogenesis, 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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6دورية أكاديمية
المؤلفون: Pengfei Zhang, Xuyun Hu, Ruolan Guo, Jun Guo, Wei Li, Suyun Qian, Chanjuan Hao, Jun Liu
المصدر: Pediatric Investigation, Vol 3, Iss 2, Pp 86-90 (2019)
مصطلحات موضوعية: HMGCS2 mutation, Hypoketotic hypoglycemia, Mitochondrial HMG‐CoA synthase deficiency, Pediatric intensive care unit, Whole‐exome sequencing, Pediatrics, RJ1-570
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2574-2272
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7
المؤلفون: PE Fitzsimons, Tracey A. Conlon, Ingrid Borovickova, Sinéad Murphy, Ina Knerr, Ellen Crushell, Fidelma Kirby
المصدر: JIMD Reports
JIMD Reports, Vol 55, Iss 1, Pp 26-31 (2020)مصطلحات موضوعية: medicine.medical_specialty, lcsh:QH426-470, hypertriglyceridemia, Endocrinology, Diabetes and Metabolism, Encephalopathy, Case Report, Case Reports, Hypoglycemia, Compound heterozygosity, lcsh:Diseases of the endocrine glands. Clinical endocrinology, Biochemistry, Genetics and Molecular Biology (miscellaneous), Internal medicine, Internal Medicine, medicine, 3‐hydroxyglutarate (3HG), Hemophagocytic lymphohistiocytosis, lcsh:RC648-665, HMG‐CoA synthase deficiency, business.industry, 4‐hydroxy‐6‐methyl‐2‐pyrone (4HMP), Hypertriglyceridemia, Hypoketotic hypoglycemia, Metabolic acidosis, medicine.disease, ketogenesis, lcsh:Genetics, hypoglycemia, Endocrinology, business, Urine organic acids
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8
المؤلفون: Toshiyuki Fukao, Hideo Sasai, Hiroki Otsuka, Yuki Hasegawa, Hironori Kobayashi, Yasuhiro Takeshima, Kenji Yamada, Yuichi Takami, Tomoko Lee
المصدر: JIMD Reports
JIMD Reports, Vol 48, Iss 1, Pp 19-25 (2019)مصطلحات موضوعية: medicine.medical_specialty, lcsh:QH426-470, Endocrinology, Diabetes and Metabolism, Case Report, Case Reports, Hypoglycemia, Compound heterozygosity, lcsh:Diseases of the endocrine glands. Clinical endocrinology, Biochemistry, Genetics and Molecular Biology (miscellaneous), Internal medicine, Ketogenesis, Internal Medicine, medicine, Acetylcarnitine, fatty liver, lcsh:RC648-665, HMG‐CoA synthase deficiency, business.industry, Fatty liver, glutarate, Metabolic acidosis, medicine.disease, ketogenesis, lcsh:Genetics, Endocrinology, Ketone bodies, Ketosis, business, medicine.drug
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9
المؤلفون: Chanjuan Hao, Pengfei Zhang, Suyun Qian, Jun Liu, Xuyun Hu, Ruolan Guo, Jun Guo, Wei Li
المصدر: Pediatric Investigation, Vol 3, Iss 2, Pp 86-90 (2019)
Pediatric Investigationمصطلحات موضوعية: Proband, medicine.medical_specialty, Hypoglycemia, Bioinformatics, Pediatrics, RJ1-570, law.invention, Whole‐exome sequencing, law, HMGCS2 mutation, Genotype, medicine, Pediatric intensive care unit, Exome sequencing, Hypoketotic hypoglycemia, Molecular pathology, business.industry, Original Articles, medicine.disease, Intensive care unit, Mitochondrial HMG‐CoA synthase deficiency, Pediatrics, Perinatology and Child Health, Medical genetics, Original Article, business
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10كتاب
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