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1دورية أكاديمية
المصدر: Frontiers in Pediatrics, Vol 11 (2023)
مصطلحات موضوعية: biliary atresia, hepatotoxicity, hypermethioninemia, methionine metabolism, metabolic intermediates, Pediatrics, RJ1-570
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fped.2023.1263836/fullTest; https://doaj.org/toc/2296-2360Test
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2دورية أكاديمية
المؤلفون: Fan Tong, Yuchen Zhang, Chi Chen, Ling Zhu, Yijun Lu, Zhanming Zhang, Ting Chen, Jiaxuan Yan, Jing Zheng, Xiaoxu Zhao, Duo Zhou, Xin Yang, Rulai Yang, Xiaohui Cang, Pingping Jiang, Qiang Shu
المصدر: Frontiers in Cell and Developmental Biology, Vol 10 (2023)
مصطلحات موضوعية: methionine adenosyltransferase deficiency (MATD), long-term prognosis, MAT1A, neurological deficits, hypermethioninemia, S-adenosylmethionine, Biology (General), QH301-705.5
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fcell.2022.1059680/fullTest; https://doaj.org/toc/2296-634XTest
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3دورية أكاديمية
المؤلفون: Candela, Egidio, Zagariello, Michele, Di Natale, Valeria, Ortolano, Rita, Righetti, Francesca, Assirelli, Valentina, Biasucci, Giacomo, Cassio, Alessandra, Pession, Andrea, Baronio, Federico
المساهمون: Candela, Egidio, Zagariello, Michele, Di Natale, Valeria, Ortolano, Rita, Righetti, Francesca, Assirelli, Valentina, Biasucci, Giacomo, Cassio, Alessandra, Pession, Andrea, Baronio, Federico
مصطلحات موضوعية: CBSD, LC-MS/MS, betaine, classic homocystinuria, cysthiatonine beta-synthase deficiency, diet, expanded newborn screening, homocysteine, hypermethioninemia, pyridoxine
وصف الملف: ELETTRONICO
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/36832525; info:eu-repo/semantics/altIdentifier/wos/WOS:000938343400001; volume:10; issue:2; firstpage:1; lastpage:14; numberofpages:14; journal:CHILDREN; https://hdl.handle.net/11585/919468Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85148717892; https://www.mdpi.com/2227-9067/10/2/396Test
الإتاحة: https://doi.org/10.3390/children10020396Test
https://hdl.handle.net/11585/919468Test
https://www.mdpi.com/2227-9067/10/2/396Test -
4دورية أكاديمية
المؤلفون: Egidio Candela, Michele Zagariello, Valeria Di Natale, Rita Ortolano, Francesca Righetti, Valentina Assirelli, Giacomo Biasucci, Alessandra Cassio, Andrea Pession, Federico Baronio
المصدر: Children; Volume 10; Issue 2; Pages: 396
مصطلحات موضوعية: expanded newborn screening, homocysteine, hypermethioninemia, pyridoxine, diet, betaine, cysthiatonine beta-synthase deficiency, LC-MS/MS, classic homocystinuria, CBSD
وصف الملف: application/pdf
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5دورية أكاديمية
المؤلفون: Najmah Almuhsen, Simon‐pierre Guay, Marie Lefrancois, Cheryl Gauvin, AL Qasim Al Bahlani, Najma Ahmed, Christine Saint‐Martin, Tommy Gagnon, Paula Waters, Nancy Braverman, D. Buhas
المصدر: JIMD Reports, Vol 61, Iss 1, Pp 52-59 (2021)
مصطلحات موضوعية: ADK deficiency, adenosine, gestational alloimmune disease, hypermethioninemia, liver dysfunction in metabolic disease, methionine, 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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6دورية أكاديمية
المصدر: Genes, Vol 13, Iss 7, p 1163 (2022)
مصطلحات موضوعية: MAT1A, hypermethioninemia, methionine adenosyltransferase, newborn screening, CNS symptoms, Genetics, QH426-470
العلاقة: https://www.mdpi.com/2073-4425/13/7/1163Test; https://doaj.org/toc/2073-4425Test; https://doaj.org/article/7d981b32621d4f6f95bb5025bab002d2Test
الإتاحة: https://doi.org/10.3390/genes13071163Test
https://doaj.org/article/7d981b32621d4f6f95bb5025bab002d2Test -
7دورية أكاديمية
المؤلفون: John Allen, Bronwyn Power, Aida Abedin, Orla Purcell, Ina Knerr, Ahmad Monavari
المصدر: JIMD Reports, Vol 47, Iss 1, Pp 41-46 (2019)
مصطلحات موضوعية: encephalopathy, homocystinuria, hypermethioninemia, hypermethioninemic encephalopathy, methionine, 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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8دورية أكاديمية
المؤلفون: Michael J. Muriello, Sarah Viall, Teodoro Bottiglieri, Kristina Cusmano-Ozog, Carlos R. Ferreira
المصدر: Molecular Genetics and Metabolism Reports, Vol 13, Iss C, Pp 9-12 (2017)
مصطلحات موضوعية: Methionine adenosyltransferase I/III deficiency, Hypermethioninemia, MAT1A, Mudd's disease, Medicine (General), R5-920, Biology (General), QH301-705.5
وصف الملف: electronic resource
العلاقة: http://www.sciencedirect.com/science/article/pii/S2214426917300630Test; https://doaj.org/toc/2214-4269Test
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9دورية أكاديمية
المؤلفون: Atsushi Okawa, Junko Inagaki, Kenji Inagaki, Masaya Hayashi, Takashi Tamura, Toshihide Okajima, 大川 敦司, 岡島 俊英, 林 将也, 田村 隆, 稲垣 純子, 稲垣 賢二
المصدر: ビタミン / VITAMINS. 2020, 94(11):549
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10دورية أكاديمية
المؤلفون: Villani G. R. D., Albano L., Caterino M., Crisci D., Di Tommaso S., Fecarotta S., Fisco M. G., Frisso G., Gallo G., Mazzaccara C., Marchese E., Nolano A., Parenti G., Pecce R., Redi A., Salvatore F., Strisciuglio P., Turturo M. G., Vallone F., Ruoppolo M.
المساهمون: Villani, G. R. D., Albano, L., Caterino, M., Crisci, D., Di Tommaso, S., Fecarotta, S., Fisco, M. G., Frisso, G., Gallo, G., Mazzaccara, C., Marchese, E., Nolano, A., Parenti, G., Pecce, R., Redi, A., Salvatore, F., Strisciuglio, P., Turturo, M. G., Vallone, F., Ruoppolo, M.
مصطلحات موضوعية: CBS deficiency, Hypermethioninemia, MAT I/III deficiency, Newborn screening
العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000500718300040; volume:21; firstpage:100520; journal:MOLECULAR GENETICS AND METABOLISM REPORTS; http://hdl.handle.net/11588/766397Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85073024495; http://www.journals.elsevier.com/molecular-genetics-and-metabolism-reportsTest/
الإتاحة: https://doi.org/10.1016/j.ymgmr.2019.100520Test
http://hdl.handle.net/11588/766397Test
http://www.journals.elsevier.com/molecular-genetics-and-metabolism-reportsTest/
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