المؤلفون: Kaur, Sandeep, Bhadoriya, Ravi Pratap Singh, Jain, Shaveta, Lal, Sadhna, Attri, Savita Verma, Prasad, Rajendra, Ram, Sant^{Aff1, IDs12291024012366_cor7}

المصدر: Indian Journal of Clinical Biochemistry. :1-12

المؤلفون: Preeya Rehsi, Karolina Witek, Erin Emmett, Rachel Carling, Charles Turner, Neil Dalton, Tim Hutchin, Nedim Hadzic, Anil Dhawan, Roshni Vara

المصدر: JIMD Reports, Vol 65, Iss 4, Pp 255-261 (2024)

مصطلحات موضوعية: 4‐oxo 6‐hydroxyhepanoate, emerging diagnostic biomarker, fumarylacetoacetate hydrolase, succinylacetone, tyrosinaemia type 1, 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/e08df0a789ed4de9ad5e32b318cf89af

المؤلفون: Bissig-Choisat, Beatrice, Alves-Bezerra, Michele, Zorman, Barry, Ochsner, Scott A, Barzi, Mercedes, Legras, Xavier, Yang, Diane, Borowiak, Malgorzata, Dean, Adam M, York, Robert B, Galvan, N Thao N, Goss, John, Lagor, William R, Moore, David D, Cohen, David E, McKenna, Neil J, Sumazin, Pavel, Bissig, Karl-Dimiter

المصدر: JHEP reports : innovation in hepatology. 3(3)

مصطلحات موضوعية: ALP, alkaline phosphatase, ALT, alanine aminotransferase, AST, aspartate aminotransferase, CBPEGs, cholesterol biosynthesis pathway enzyme genes, CE, cholesteryl ester, CER, ceramide, CHHs, chimeric human hepatocytes, CMHs, chimeric mouse hepatocytes, CT, confidence transcript, DAG, diacylglycerol, DCER, dihydroceramide, DEG, differentially expressed gene, FA, fatty acid, FAH, fumarylacetoacetate hydrolase, FFA, free fatty acid, GGT, gamma-glutamyl transpeptidase, HCC, hepatocellular carcinoma, HCER, hexosylceramide, HCT, high confidence transcriptional target, Human disease modelling, Humanised mice, LCER, lactosylceramide, LPC, lysophosphatidylcholine, LPE, lysophosphatidylethanolamine, Lipid metabolism, MAG, monoacylglycerol, MUFA, monounsaturated fatty acid, NAFLD, non-alcoholic fatty liver disease, NASH, non-alcoholic steatohepatitis, NC, normal chow, NTBC, nitisinone, Non-alcoholic fatty liver disease, PC, phosphatidylcholine, PE, phosphatidylethanolamine, PI, phosphatidylinositol, PNPLA3, patatin-like-phospholipase domain-containing protein 3, PUFA, polyunsaturated free FA, SM, sphingomyelin, SREBP, sterol regulatory element-binding protein, Steatosis, TAG, triacylglycerol, TIRF, transgene-free Il2rg-/-/Rag2-/-/Fah-/-, WD, Western-type diet, hALB, human albumin, ALP, alkaline phosphatase, ALT, alanine aminotransferase, AST, aspartate aminotransferase, CBPEGs, cholesterol biosynthesis pathway enzyme genes, CE, cholesteryl ester, CER, ceramide, CHHs, chimeric human hepatocytes, CMHs, chimeric mouse hepatocytes, CT, confidence transcript, DAG, diacylglycerol, DCER, dihydroceramide, DEG, differentially expressed gene, FA, fatty acid, FAH, fumarylacetoacetate hydrolase, FFA, free fatty acid, GGT, gamma-glutamyl transpeptidase, HCC, hepatocellular carcinoma, HCER, hexosylceramide, HCT, high confidence transcriptional target, LCER, lactosylceramide, LPC, lysophosphatidylcholine, LPE, lysophosphatidylethanolamine, MAG, monoacylglycerol, MUFA, monounsaturated fatty acid, NAFLD, non-alcoholic fatty liver disease, NASH, non-alcoholic steatohepatitis, NC, normal chow, NTBC, nitisinone, PC, phosphatidylcholine, PE, phosphatidylethanolamine, PI, phosphatidylinositol, PNPLA3, patatin-like-phospholipase domain-containing protein 3, PUFA, polyunsaturated free FA, SM, sphingomyelin, SREBP, sterol regulatory element-binding protein, TAG, triacylglycerol, TIRF, transgene-free Il2rg-/-/Rag2-/-/Fah-/-, WD, Western-type diet, hALB, human albumin

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/2hg8h2x9

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المؤلفون: Maximiliano L. Cacicedo, Christine Weinl-Tenbruck, Daniel Frank, Sebastian Wirsching, Beate K. Straub, Jana Hauke, Jürgen G. Okun, Nigel Horscroft, Julia B. Hennermann, Fred Zepp, Frédéric Chevessier-Tünnesen, Stephan Gehring

المصدر: Molecular Therapy: Methods & Clinical Development, Vol 26, Iss , Pp 294-308 (2022)

مصطلحات موضوعية: hereditary tyrosinemia type 1, fumarylacetoacetate hydrolase, nitisinone supplementation, mRNA-based therapy, mouse model, Genetics, QH426-470, Cytology, QH573-671

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2329050122000985; https://doaj.org/toc/2329-0501

URL الوصول: https://doaj.org/article/c558916830de456c8e082c476d56542c

المؤلفون: Huan Chi, Chun Gan, Yaru Jiang, Dan Chen, Jiawen Qiu, Qing Yang, Yaxi Chen, Mo Wang, Haiping Yang, Wei Jiang, Qiu Li

المصدر: Molecular Genetics & Genomic Medicine, Vol 11, Iss 1, Pp n/a-n/a (2023)

مصطلحات موضوعية: chronic kidney disease, fumarylacetoacetate hydrolase, hereditary tyrosinemia type 1, mutation, whole exome sequencing, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2324-9269

URL الوصول: https://doaj.org/article/450638870a71442bbc148988c11d7f15

المؤلفون: Varughese, Bijo^{Aff1, IDs1229102000944z_cor1}, Madrewar, Dnyanoba, Polipalli, Sunil Kumar, Kapoor, Seema

المصدر: Indian Journal of Clinical Biochemistry. 37(1):40-50

المؤلفون: Marwa ALMahroos, Mohammed AlMannai

المصدر: Journal of Biochemical and Clinical Genetics, Vol 5, Iss 1, Pp 17-19 (2022)

مصطلحات موضوعية: tyrosinemia type i, hereditary tyrosinemiatype 1, nitisinone, fah, fumarylacetoacetate hydrolase, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://www.ejmanager.com/fulltextpdf.php?mno=91001; https://doaj.org/toc/1658-807X

URL الوصول: https://doaj.org/article/16f2cfe38b6e47aeaf0341ec4eb393a8

المؤلفون: Baydakova, G. V.^Aff13, Ivanova, T. A.^Aff13, Mikhaylova, S. V.^Aff14, Saydaeva, D. Kh.^Aff15, Dzhudinova, L. L.^Aff15, Akhlakova, A. I.^Aff16, Gamzatova, A. I.^Aff16, Bychkov, I. O.^Aff13, Zakharova, E. Yu.^Aff13

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 45. 45:89-93

المؤلفون: Jaka Sikonja, Jernej Brecelj, Mojca Zerjav Tansek, Barbka Repic Lampret, Ana Drole Torkar, Simona Klemencic, Neza Lipovec, Valentina Stefanova Kralj, Sara Bertok, Jernej Kovac, Barbara Faganel Kotnik, Marketa Tesarova, Ziga Iztok Remec, Marusa Debeljak, Tadej Battelino, Urh Groselj

المصدر: Molecular Genetics and Metabolism Reports, Vol 30, Iss , Pp 100836- (2022)

مصطلحات موضوعية: Tyrosinemia, Fumarylacetoacetate hydrolase, Nitisinone, Dried blood spot, Succinylacetone, Intronic variant, Medicine (General), R5-920, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2214426921001312; https://doaj.org/toc/2214-4269

URL الوصول: https://doaj.org/article/9f13cc7dddfa42528e11ec36f92ce8fe