Art

J-GLOBAL ID：201702238713033218   Reference number：17A1023668

Isovaleric acidemia: Therapeutic response to supplementation with glycine, l-carnitine, or both in combination and a 10-year follow-up case study

イソ吉草酸血症:併用と10年間の追跡調査事例研究におけるグリシン,L-カルニチン,またはその両方を用いた補給への治療反応【Powered by NICT】

Author (7)： Chinen Yasutsugu (Department of Pediatrics, Faculty of Medicine, University of the Ryukyus, Nishihara 903-0125, Japan) ,  Nakamura Sadao (Department of Pediatrics, Faculty of Medicine, University of the Ryukyus, Nishihara 903-0125, Japan) ,  Tamashiro Kunihito (Department of Pediatrics, Faculty of Medicine, University of the Ryukyus, Nishihara 903-0125, Japan) ,  Sakamoto Osamu (Department of Pediatrics, Tohoku University School of Medicine, Sendai 980-8574, Japan) ,  Tashiro Kyoko (Research Institute of Medical Mass Spectrometry, Kurume University School of Medicine, Kurume 830-0011, Japan) ,  Inokuchi Takahiro (Research Institute of Medical Mass Spectrometry, Kurume University School of Medicine, Kurume 830-0011, Japan) ,  Nakanishi Koichi (Department of Pediatrics, Faculty of Medicine, University of the Ryukyus, Nishihara 903-0125, Japan)
Material： Molecular Genetics and Metabolism Reports
Volume： 11  Page： 2-5  Publication year： 2017 
JST Material Number： W2993A  ISSN： 2214-4269  Document type： Article
Article type： 原著論文  Country of issue： Netherlands (NLD)  Language： ENGLISH (EN)

Abstract/Point： Isovaleric acidemia (IVA) is a...

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Thesaurus term： toxicity ,  Metabolism ,  enzyme ,  load test ,  Phenotype ,  *follow-up study ,  Serum ,  patient ,  Ammonia ,  *case study ,  metabasis ,  organic acid ,  fatty acid ,  aliphatic amine ,  aliphatic carboxylic acid ,  branched-chain amino acid ,  amino acid

Author keywords (5)： Isovaleric acidemia ,  Glycine ,  l-carnitine ,  Isovalerylcarnitine ,  Isovalerylglycine

JST classification (2)： Enzyme in general  (EB09010D) ,  Diagnostics of metabolic diseases,nutritional diseases.  (GD05020U)

Substance index (3)： Isovaleric acid ,  Leucine ,  Glycine

Terms in the title (8)： イソ吉草酸血症 ,  併用 ,  追跡調査 ,  研究 ,  グリシン ,  L-カルニチン ,  補給 ,  治療反応