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: Gergely Imre, Bertalan Takács, Erik Czipa, Andrea Bakné Drubi, Gábor Jaksa, Dóra Latinovics, Andrea Nagy, Réka Karkas, Liza Hudoba, Bálint Márk Vásárhelyi, Gabriella Pankotai-Bodó, András Blastyák, Zoltán Hegedűs, Péter Germán, Balázs Bálint, Khaldoon Sadiq Ahmed Abdullah, Anna Georgina Kopasz, Anita Kovács, László G. Nagy, Farkas Sükösd, Lajos Pintér, Thomas Rülicke, Endre Barta, István Nagy, Lajos Haracska, Lajos Mátés

المصدر: Molecular Therapy: Methods & Clinical Development, Vol 29, Iss , Pp 145-159 (2023)

مصطلحات موضوعية: tyrosinemia type I, gene therapy, DNA transposon, Sleeping Beauty, piggyBac, prolonged transpositional activity, Genetics, QH426-470, Cytology, QH573-671

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2329050123000396; https://doaj.org/toc/2329-0501

URL الوصول: https://doaj.org/article/11d546c2a6444753ab7f307b4cde6bdd

المؤلفون: Gwendolyn Gramer, Saskia B. Wortmann, Junmin Fang-Hoffmann, Dirk Kohlmüller, Jürgen G. Okun, Holger Prokisch, Thomas Meitinger, Georg F. Hoffmann

المصدر: International Journal of Neonatal Screening, Vol 10, Iss 1, p 17 (2024)

مصطلحات موضوعية: newborn screening, tyrosinemia type I, succinylacetone, maleylacetoacetate isomerase deficiency, GSTZ1, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2409-515X/10/1/17; https://doaj.org/toc/2409-515X

URL الوصول: https://doaj.org/article/3fbaeff2f15a418bae817fb842064df4

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: Peng Gu, Qin Yang, Bangzhu Chen, Ya-nan Bie, Wen Liu, Yuguang Tian, Hongquan Luo, Tao Xu, Chunjin Liang, Xing Ye, Yan Liu, Xiangwu Tang, Weiwang Gu

المصدر: Molecular Therapy: Methods & Clinical Development, Vol 21, Iss , Pp 530-547 (2021)

مصطلحات موضوعية: HPD ablation, tyrosinemia type I, lethal liver injury, pig, metabolic reprogramming, oxidative stress, Genetics, QH426-470, Cytology, QH573-671

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2329050121000681; https://doaj.org/toc/2329-0501

URL الوصول: https://doaj.org/article/5d4f198e629e4baf9845e304c5d778a9

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المؤلفون: Haiyan Zhang, Chen Liu, Yanyan Ma, Lin Lin, Yuqiang Lv, Min Gao, Zhongtao Gai, Yi Liu

المصدر: Stem Cell Research, Vol 53, Iss , Pp 102331- (2021)

مصطلحات موضوعية: iPSC, Reprogramming, hereditary tyrosinemia type I, FAH, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S187350612100177X; https://doaj.org/toc/1873-5061

URL الوصول: https://doaj.org/article/253b28f68f804a62b9ced869278c6ca9

المؤلفون: van Spronsen, Francjan J.^Aff6, van Rijn, Margreet^Aff7, Meyer, Uta^Aff8, Das, Anibh M.^Aff9

المساهمون: COHEN, IRUN R., Series editor^Aff1, LAJTHA, ABEL, Series editor^Aff2, LAMBRIS, JOHN D., Series editor^Aff3, PAOLETTI, RODOLFO, Series editor^Aff4, Tanguay, Robert M., editor^Aff5

المصدر: Hereditary Tyrosinemia : Pathogenesis, Screening and Management. 959:197-204

المؤلفون: Giguère, Yves^{Aff6, Aff7}, Berthier, Marie-Thérèse^Aff6

المساهمون: COHEN, IRUN R., Series editor^Aff1, LAJTHA, ABEL, Series editor^Aff2, LAMBRIS, JOHN D., Series editor^Aff3, PAOLETTI, RODOLFO, Series editor^Aff4, Tanguay, Robert M., editor^Aff5

المصدر: Hereditary Tyrosinemia : Pathogenesis, Screening and Management. 959:139-146

المؤلفون: McKiernan, Patrick^Aff6

المساهمون: COHEN, IRUN R., Series editor^Aff1, LAJTHA, ABEL, Series editor^Aff2, LAMBRIS, JOHN D., Series editor^Aff3, PAOLETTI, RODOLFO, Series editor^Aff4, Tanguay, Robert M., editor^Aff5

المصدر: Hereditary Tyrosinemia : Pathogenesis, Screening and Management. 959:85-91