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

Relation: http://www.sciencedirect.com/science/article/pii/S2214426924000156; https://doaj.org/toc/2214-4269

URL الوصول: https://doaj.org/article/9318d626e74e4516b096a145643dc2c0

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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

URL الوصول: https://doaj.org/article/cd7a97af51ce4919849e049c8c19c00c

المؤلفون: Conboy, Erin^{Aff13, Aff14}, Vairo, Filippo^Aff14, Schultz, Matthew^Aff15, Agre, Katherine^{Aff13, Aff14}, Ridsdale, Ross^Aff15, Deyle, David^{Aff13, Aff14}, Oglesbee, Devin^{Aff13, Aff15}, Gavrilov, Dimitar^{Aff13, Aff14, Aff15}, Klee, Eric W.^Aff14, Lanpher, Brendan^{Aff13, Aff14}

المساهمون: Baumgartner, Matthias, Series Editor^{Aff1, Aff8}, Patterson, Marc, Series Editor^{Aff2, Aff9}, Rahman, Shamima, Series Editor^{Aff3, Aff10}, Peters, Verena, Series Editor^{Aff4, Aff12}, Morava, Eva, Editor-in-Chief^{Aff5, Aff7}, Zschocke, Johannes, Series Editor^{Aff6, Aff11}

المصدر: JIMD Reports, Volume 40. 40:63-69

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

URL الوصول: https://doaj.org/article/e4ee7a8d609845fc96c932e7c13ea715

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

URL الوصول: https://doaj.org/article/bd1dd85ebc5c4b698b7fc74887f98670

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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7430d5ef78275268ea339e78a4eba94a
https://doi.org/10.1002/jmd2.12146

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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::94b8018bf9fbb6d4c88856d04266fee6
http://europepmc.org/articles/PMC6606983

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 Investigation

مصطلحات 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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::abce01353c62c7051bc71a3251f27336
https://pubmed.ncbi.nlm.nih.gov/32851297

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