المؤلفون: Yunxi Chen, Qinghua Zhang, Lei Cao, Xuan Feng, Pengwu Lin, Shaohua Zhu, Furong Liu, Xing Wang, Shengju Hao, Yafei Cao, Hongyan Wang, Yali Ni

المصدر: Molecular Genetics and Metabolism Reports, Vol 40, Iss , Pp 101123- (2024)

مصطلحات موضوعية: Glutaric aciduria type 1 (GA1), GCDH gene, Trio whole-exome sequencing (trio-WES), Novel variant, Medicine (General), R5-920, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2214426924000764; https://doaj.org/toc/2214-4269

URL الوصول: https://doaj.org/article/fae04b5371cb40dd98ba88073d61fa2b

المؤلفون: Guo, Zihan, Gong, Anyue, Liu, Shiguo^{Aff3, Aff4, IDs00438023020028_cor3}, Liang, Hui^{Aff1, IDs00438023020028_cor4}

المصدر: Molecular Genetics and Genomics. 298(3):603-614

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

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المؤلفون: Yiming Lin, Wenjun Wang, Chunmei Lin, Zhenzhu Zheng, Qingliu Fu, Weilin Peng, Dongmei Chen

المصدر: Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-8 (2021)

مصطلحات موضوعية: Glutaric acidemia type 1, newborn screening, GCDH gene, free carnitine, primary carnitine deficiency, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/1796682eb65647f8b42775dccb784608

المؤلفون: Sitta, Angela^Aff1, Guerreiro, Gilian, de Moura Coelho, Daniella, da Rocha, Vitoria Volfart, dos Reis, Bianca Gomes, Sousa, Carmen, Vilarinho, Laura, Wajner, Moacir^{Aff1, Aff4}, Vargas, Carmen Regla^{Aff1, Aff2, Aff4}

المصدر: Metabolic Brain Disease. 36(2):205-212

المؤلفون: Lin, Yiming, Wang, Wenjun, Lin, Chunmei, Zheng, Zhenzhu, Fu, Qingliu, Peng, Weilin^Aff1, Chen, Dongmei^Aff3

المصدر: Orphanet Journal of Rare Diseases. 16(1)

المؤلفون: Kurkina, Marina V.^Aff1, Mihaylova, Svetlana V., Baydakova, Galina V., Saifullina, Elena V., Korostelev, Sergey A., Pyankov, Denis V., Kanivets, Ilya V.^{Aff5, Aff6}, Yunin, Maksim A., Pechatnikova, Natalya L., Zakharova, Ekaterina Y.

المصدر: Metabolic Brain Disease. 35(6):1009-1016

المؤلفون: Huishu E., Lili Liang, Huiwen Zhang, Wenjuan Qiu, Jun Ye, Feng Xu, Zhuwen Gong, Xuefan Gu, Lianshu Han

المصدر: Frontiers in Genetics, Vol 12 (2021)

مصطلحات موضوعية: glutaric aciduria type 1, glutaryl-CoA dehydrogenase, glutarylcarnitine, capryloylcarnitine, GCDH gene, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2021.702374/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/8b6e15bdff87439b819b758d04fd1711

المؤلفون: Kaya Ozcora, Gül Demet^Aff13, Gokay, Songul^Aff14, Canpolat, Mehmet^Aff13, Kardaş, Fatih^Aff14, Kendirci, Mustafa^Aff14, Kumandaş, Sefer^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 38. 38:7-12