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1دورية أكاديمية
المؤلفون: Fang Guo, Lingna Zhou, Feng Zhang, Bin Yu, Yuqi Yang, Zhiwei Liu
المصدر: Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-8 (2024)
مصطلحات موضوعية: Neonatal inherited metabolic disease, Gene variant carriers, Biochemical indicators, Medicine
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1750-1172Test
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2دورية أكاديمية
المؤلفون: Yi Liu, Xue Ma, Lulu Kang, Ying Jin, Mengqiu Li, Jinqing Song, Haixia Li, Yongtong Cao, Yanling Yang
المصدر: Frontiers in Nutrition, Vol 11 (2024)
مصطلحات موضوعية: homocysteine, homocystinemia, inherited metabolic disease, metabolic evaluation, methylcitric acid, methylmalonic acid, Nutrition. Foods and food supply, TX341-641
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fnut.2024.1414681/fullTest; https://doaj.org/toc/2296-861XTest
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3دورية أكاديمية
المؤلفون: Rannvá K. Abrahamsen, Allan M. Lund, Jan Rasmussen
المصدر: JIMD Reports, Vol 64, Iss 6, Pp 453-459 (2023)
مصطلحات موضوعية: Faroe Islands, inherited metabolic disease, neonatal screening, primary carnitine deficiency, sudden death, Diseases of the endocrine glands. Clinical endocrinology, RC648-665, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2192-8312Test
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4دورية أكاديمية
المؤلفون: Marjan Shakiba, Mehrdad Yasaei, Hedyeh Saneifard, Asieh Mosallanejad, Mohammad Reza Alaei, Farzad Kobarfard, Marjan Esfahanizadeh, Narges Anousheh
المصدر: Molecular Genetics and Metabolism Reports, Vol 40, Iss , Pp 101103- (2024)
مصطلحات موضوعية: Screening, Inherited metabolic disease, Genetics, IMD, Neonates, Medicine (General), R5-920, Biology (General), QH301-705.5
وصف الملف: electronic resource
العلاقة: http://www.sciencedirect.com/science/article/pii/S2214426924000569Test; https://doaj.org/toc/2214-4269Test
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5دورية أكاديمية
المؤلفون: Stephanie Maissen-Abgottspon, Raphaela Muri, Michel Hochuli, Péter Reismann, András Gellért Barta, Ismail Mucahit Alptekin, Álvaro Hermida-Ameijeiras, Alessandro P. Burlina, Alberto B. Burlina, Chiara Cazzorla, Jessica Carretta, Roman Trepp, Regula Everts
المصدر: Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-12 (2023)
مصطلحات موضوعية: Phenylketonuria, Health-related quality of life, Inherited metabolic disease, Cognition, Metabolic control, Medicine
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1750-1172Test
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6دورية أكاديمية
المؤلفون: Felipe Martelli, Jiayi Lin, Sarah Mele, Wendy Imlach, Oguz Kanca, Christopher K Barlow, Jefferson Paril, Ralf B Schittenhelm, John Christodoulou, Hugo J Bellen, Matthew DW Piper, Travis Johnson
مصطلحات موضوعية: Biological sciences, Bioinformatics and computational biology, amino acid metabolism, diet, fruit fly, inherited metabolic disease, isolated sulfite oxidase deficiency, nutrition, nutrigenomics, Drosophila
الإتاحة: https://doi.org/10.26181/25332223.v1Test
https://figshare.com/articles/journal_contribution/Identifying_potential_dietary_treatments_for_inherited_metabolic_disorders_using_Drosophila_nutrigenomics_/25332223Test -
7دورية أكاديمية
المؤلفون: Baruteau, J, Brunetti-Pierri, N, Gissen, P
المصدر: Journal of Inherited Metabolic Disease , 47 (1) pp. 9-21. (2024)
مصطلحات موضوعية: genome editing/insertion, inherited metabolic disease, liver gene therapy
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/10185756/1/Liver%20directed%20gene%20therapy%20for%20inherited%20metabolic%20diseases.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10185756Test/
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مصطلحات موضوعية: Deficiência da desidrogenasse dos ácidos gordos de cadeia média, Doença hereditária do metabolismo, Doença da beta-oxidação dos ácidos gordos, Hipoglicémia hipocetótica, Rastreio neonatal, Medium-chain acyl-coA dehydrogenase deficiency, Inherited metabolic disease, Fatty acid oxidation disorders, Hypoketotic hypoglycemia, Newborn screening
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9دورية أكاديمية
المؤلفون: Abigail Whitehouse, Preeya Rehsi, Louise Hartley, Stephanie Grunewald, Berna Seker Yilmaz, Kelly Pegoretti Baruteau, Ayhan Yaman, Suren Thavagnanam, Julien Baruteau
المصدر: JIMD Reports, Vol 64, Iss 4, Pp 274-281 (2023)
مصطلحات موضوعية: CblG, cobalamin, homocysteine, inherited metabolic disease, isolated remethylation defect, MTHFR, Diseases of the endocrine glands. Clinical endocrinology, RC648-665, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2192-8312Test
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10دورية أكاديمية
المؤلفون: Rachel S. Carling, Katy Hedgethorne, Anupam Chakrapani, Patricia L. Hall, Nick Flynn, Toby Greenfield, Stuart J. Moat, Joshua Ssali, Lynette Shakespeare, Nazia Taj, Teresa H. Y. Wu, Mark Anderson, Arunabha Ghosh, Hugh Lemonde, Germaine Pierre, Mark Sharrard, Sreevidya Sreekantam, James R. Bonham
المصدر: International Journal of Neonatal Screening, Vol 10, Iss 1, p 24 (2024)
مصطلحات موضوعية: isovaleric acidemia, false positive, newborn screening, inherited metabolic disease, Pediatrics, RJ1-570
وصف الملف: electronic resource