المؤلفون: Maalej, Marwa^{Aff1, IDs11011024013436_cor1}, Sfaihi, Lamia^{Aff2, Aff3}, Fersi, Olfa-Alila, Khabou, Boudour, Ammar, Marwa, Felhi, Rahma, Kharrat, Marwa, Chouchen, Jihen, Kammoun, Thouraya, Tlili, Abdelaziz, Fakhfakh, Faiza^{Aff1, IDs11011024013436_cor11}

المصدر: Metabolic Brain Disease. 39(4):611-623

المؤلفون: Carlston, Colleen M.^Aff13, Ferdinandusse, Sacha^Aff14, Hobert, Judith A.^{Aff15, Aff16}, Mao, Rong^{Aff15, Aff16}, Longo, Nicola^{Aff15, Aff16, Aff17}

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 43. 43:103-109

المؤلفون: Mari Kuwajima, Karin Kojima, Hitoshi Osaka, Yusuke Hamada, Eriko Jimbo, Miyuki Watanabe, Shiho Aoki, Ikuko Sato-Shirai, Keiko Ichimoto, Takuya Fushimi, Kei Murayama, Akira Ohtake, Masakazu Kohda, Yoshihito Kishita, Yukiko Yatsuka, Shumpei Uchino, Masakazu Mimaki, Noriko Miyake, Naomichi Matsumoto, Yasushi Okazaki, Tomomi Ogata, Takanori Yamagata, Kazuhiro Muramatsu

المصدر: Molecular Genetics and Metabolism Reports, Vol 29, Iss , Pp 100809- (2021)

مصطلحات موضوعية: Short-chain enoyl-CoA hydratase deficiency, Leigh syndrome, Diet therapy, Medicine (General), R5-920, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S221442692100104X; https://doaj.org/toc/2214-4269

URL الوصول: https://doaj.org/article/ade6758023d041699e4aaf4d74f60a8f

المؤلفون: Hua Yang, Dan Yu

المصدر: BMC Pediatrics, Vol 20, Iss 1, Pp 1-10 (2020)

مصطلحات موضوعية: Short-chain enoyl-CoA hydratase deficiency, ECHS1,urinary metabolic profile, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1471-2431

URL الوصول: https://doaj.org/article/eb398a5d5995493cb729a21266b0799e

المؤلفون: Yang, Hua^{Aff1, Aff2}, Yu, Dan^{Aff1, Aff2}

المصدر: BMC Pediatrics. 20(1)

المؤلفون: Dan Yu, Hua Yang

المصدر: BMC Pediatrics, Vol 20, Iss 1, Pp 1-10 (2020)
BMC Pediatrics

مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Heterozygote, Short-chain enoyl-CoA hydratase deficiency, ECHS1,urinary metabolic profile, Urinary system, Case Report, Disease, Urine, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Valine, Internal medicine, ECHS1, medicine, Humans, Gene, Enoyl-CoA Hydratase, Dystonia, business.industry, Homozygote, lcsh:RJ1-570, lcsh:Pediatrics, medicine.disease, 030104 developmental biology, Endocrinology, Phenotype, chemistry, Child, Preschool, Pediatrics, Perinatology and Child Health, Cysteamine, Leigh Disease, business, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::793ec0020be2d5530d3cf9c528611c59
https://doaj.org/article/eb398a5d5995493cb729a21266b0799e

المؤلفون: Naomichi Matsumoto, Takanori Yamagata, Yusuke Hamada, Shumpei Uchino, Kei Murayama, Noriko Miyake, Akira Ohtake, Mari Kuwajima, Tomomi Ogata, Yoshihito Kishita, Eriko F. Jimbo, Karin Kojima, Yasushi Okazaki, Yukiko Yatsuka, Miyuki Watanabe, Masakazu Kohda, Shiho Aoki, Masakazu Mimaki, Keiko Ichimoto, Takuya Fushimi, Kazuhiro Muramatsu, Ikuko Sato-Shirai, Hitoshi Osaka

المصدر: Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports, Vol 29, Iss, Pp 100809-(2021)

مصطلحات موضوعية: Medicine (General), medicine.medical_specialty, QH301-705.5, Diet therapy, Urine, Tandem mass spectrometry, ECHS1, short-chain enoyl-CoA hydratase, chemistry.chemical_compound, R5-920, Endocrinology, Valine, Internal medicine, ECHS1, SCPCM, S-(2-carboxypropyl) cysteamine, Genetics, medicine, SCEC, S-(2-carboxyethyl)cysteine, Biology (General), Short-chain enoyl-CoA hydratase deficiency, SCECM, S-(2-carboxyethyl)cysteamine, Molecular Biology, chemistry.chemical_classification, Leigh syndrome, Amino acid, chemistry, Cysteamine, LC-MS/MS, liquid chromatography with tandem mass spectrometry, SCPC, S-(2-carboxypropyl) cysteine, Research Paper, Cysteine

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::675ecc5e25218922a70dea00dcd35285
https://doi.org/10.1016/j.ymgmr.2021.100809

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