المؤلفون: Lu Guo, Zhikun Li, Yuhuan Li, Bin Qu, Guanyi Jiao, Chen Liang, Zongbao Lu, Xin-Ge Wang, Cheng Huang, Hongwei Du, Jianmin Liang, Qi Zhou, Wei Li

المصدر: Fundamental Research, Vol 2, Iss 6, Pp 836-842 (2022)

مصطلحات موضوعية: Glutaric aciduria type I (GA-I), Glutaryl-CoA dehydrogenase (GCDH), Adeno-associated virus (AAV), Gene therapy, Neurometabolic disease, Science (General), Q1-390

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2667325822003545; https://doaj.org/toc/2667-3258

URL الوصول: https://doaj.org/article/134907e6088442b3abdf6c19065fb784

المؤلفون: Dong Xingsheng, Wang Degang, Li Zhiming, Xiong Yi, Man Tingting

المصدر: Xin yixue, Vol 53, Iss 11, Pp 842-847 (2022)

مصطلحات موضوعية: glutaric aciduria type i, gcdh gene, novel variant, prenatal diagnosis, Medicine

وصف الملف: electronic resource

Relation: https://www.xinyixue.cn/fileup/0253-9802/PDF/1669968359485-441341016.pdf; https://doaj.org/toc/0253-9802

URL الوصول: https://doaj.org/article/41308821b4ef4883881385221e42c594

المؤلفون: Kölker, Stefan^Aff6

المساهمون: Blau, Nenad, editor^Aff1, Dionisi Vici, Carlo, editor^Aff2, Ferreira, Carlos R., editor^Aff3, Vianey-Saban, Christine, editor^Aff4, van Karnebeek, Clara D. M., editor^Aff5

المصدر: Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases. :1399-1415

المؤلفون: Shaik, Muntaj^{Aff1, Aff3}, Alladi, A., Vedamurthy, AB., Devaraju, KS., Kamate, M., Kruthika-Vinod, TP.^{Aff1, IDs4099502101225x_cor6}

المصدر: Iranian Journal of Science and Technology, Transactions A: Science. 46(1):33-40

المؤلفون: Noshaba Noor, Hira Waseem

المصدر: Khyber Medical University Journal, Vol 14, Iss 1, Pp 71-3 (2022)

مصطلحات موضوعية: glutaric aciduria type i, multiple acyl coenzyme a dehydrogenase deficiency, new born screening, inborn error of metabolism, organic aciduria, organic academia, autosomal recessive, neurometabolic disorder, glutaric acidemia, Medicine

وصف الملف: electronic resource

Relation: https://www.kmuj.kmu.edu.pk/article/view/21984; https://doaj.org/toc/2305-2643; https://doaj.org/toc/2305-2651

URL الوصول: https://doaj.org/article/ec3a4d53283d42b18f4b309f76058a83

المؤلفون: Arias, Carolina, Hidalgo, Isabel, Salazar, María Florencia, Cabello, Juan Francisco, Peñaloza, Felipe, Peredo, Pilar, Valiente, Alf, Fuenzalid, Karen, Guerrero, Patricio, Cornej, Verónica

المصدر: Journal of Inborn Errors of Metabolism and Screening. January 2021 9

مصطلحات موضوعية: Glutaric aciduria type I, encephalopathic crisis, macrocephaly, lysine

وصف الملف: text/html

URL الوصول: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942021000100319

المؤلفون: Monika Bekiesinska-Figatowska, Marek Duczkowski, Agnieszka Duczkowska, Joanna Taybert, Amanda Krzywdzinska, Jolanta Sykut-Cegielska

المصدر: BMC Pediatrics, Vol 21, Iss 1, Pp 1-7 (2021)

مصطلحات موضوعية: Glutaric aciduria type I (GA-1), Magnetic resonance imaging (MRI), White matter, Tigroid pattern, Forniceal injury, Memory impairment, Pediatrics, RJ1-570

وصف الملف: electronic resource

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

URL الوصول: https://doaj.org/article/64ab916976b34e51a99c28aec9ffa5ca

المؤلفون: Leema P Cornelius, Vivekasaravanan Raju, Asir Julin

المصدر: Annals of Indian Academy of Neurology, Vol 24, Iss 1, Pp 22-26 (2021)

مصطلحات موضوعية: bat's wing appearance, dystonia, glutaric aciduria type i, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: http://www.annalsofian.org/article.asp?issn=0972-2327;year=2021;volume=24;issue=1;spage=22;epage=26;aulast=Cornelius; https://doaj.org/toc/0972-2327; https://doaj.org/toc/1998-3549

URL الوصول: https://doaj.org/article/5f6ef11335e64f41abc2cd3f7f20ed01

المؤلفون: Bekiesinska-Figatowska, Monika^Aff1, Duczkowski, Marek, Duczkowska, Agnieszka, Taybert, Joanna, Krzywdzinska, Amanda, Sykut-Cegielska, Jolanta

المصدر: BMC Pediatrics. 21(1)

المؤلفون: Elena V. Saifullina, Rim V. Magzhanov, Anzhelika I. Davletova, Al’bina K. Mardanova, Ekaterina A. Timofeyeva, Marina V. Kurkina, Ekaterina Yu. Zakharova

المصدر: Анналы клинической и экспериментальной неврологии, Vol 14, Iss 2, Pp 88-92 (2020)

مصطلحات موضوعية: glutaric aciduria type i, motor disorders, diagnostics, diet therapy, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

Relation: https://annaly-nevrologii.com/journal/pathID/article/viewFile/664/526; https://doaj.org/toc/2075-5473; https://doaj.org/toc/2409-2533

URL الوصول: https://doaj.org/article/9d772b4a9a2c43869b3bae4ffcd15863