المؤلفون: Isasi, Eugenia^{Aff1, Aff2}, Wajner, Moacir^{Aff3, Aff4}, Duarte, Juliana Avila, Olivera-Bravo, Silvia^{Aff2, IDs12640024007106_cor4}

المصدر: Neurotoxicity Research: Neurodegeneration, Neuroregeneration, Neurotrophic Action, and Neuroprotection. 42(4)

المؤلفون: Zhou, Jinfu, Li, Guilin, Deng, Lin, Zhao, Peiran, Zeng, Yinglin, Qiu, Xiaolong, Luo, Jinying^{Aff3, IDs1302302302833z_cor7}, Xu, Liangpu^{Aff1, IDs1302302302833z_cor8}

المصدر: Orphanet Journal of Rare Diseases. 18(1)

المؤلفون: Jinfu Zhou, Guilin Li, Lin Deng, Peiran Zhao, Yinglin Zeng, Xiaolong Qiu, Jinying Luo, Liangpu Xu

المصدر: Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-7 (2023)

مصطلحات موضوعية: Acylcarnitine profile, GCDH, Glutaric acidemia type 1, Southeastern China, Variant, Medicine

وصف الملف: electronic resource

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

URL الوصول: https://doaj.org/article/abaf0f2bfea244338e16c2c5e1c9ba0a

المؤلفون: Amaral, Alexandre U.^Aff2, Ferreira, Gustavo C.^Aff3, Seminotti, Bianca^Aff4, Leipnitz, Guilhian^Aff4, Wajner, Moacir^{Aff4, Aff5}

المساهمون: Kostrzewa, Richard M., editor^Aff1

المصدر: Handbook of Neurotoxicity. :945-979

المؤلفون: Alexandra Tibelius, Christina Evers, Sabrina Oeser, Isabelle Rinke, Anna Jauch, Katrin Hinderhofer

المصدر: Genes, Vol 14, Iss 12, p 2218 (2023)

مصطلحات موضوعية: glutaric aciduria, glutaric acidemia, glutaryl-CoA dehydrogenase, GCDH, inborn errors of metabolism, variant interpretation, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2073-4425/14/12/2218; https://doaj.org/toc/2073-4425

URL الوصول: https://doaj.org/article/0f98d8da7622496084cc99137b863b42

المؤلفون: Rose, Laura, Hall, Katherine, Tang, Sha, Hasadsri, Linda, Kimonis, Virginia

مصطلحات موضوعية: Biomedical and Clinical Sciences, Neurosciences, Clinical Sciences, Adult, Carnitine, Epilepsy, Temporal Lobe, Female, Frameshift Mutation, Homozygote, Humans, Intellectual Disability, Multiple Acyl Coenzyme A Dehydrogenase Deficiency, N-Acetylgalactosaminyltransferases, Spastic Paraplegia, Hereditary, Hereditary spastic paraplegia, Glutaric acidemia, Neurology & Neurosurgery, Clinical sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/67x7r1jp

المؤلفون: do Valle, Daniel Almeida, Santos, Mara Lúcia Schmitz Ferreira, Zeny, Michelle Silva, Cordeiro, Mara L

مصطلحات موضوعية: Biomedical and Clinical Sciences, Clinical Sciences, Brain Disorders, Dystonia, Neurosciences, Pediatric, Rare Diseases, Neurodegenerative, Detection, screening and diagnosis, 4.2 Evaluation of markers and technologies, anti-N-methyl-D-aspartate receptor encephalitis, glutaric acidemia I, dystonia, child, antibody, Psychology, Clinical sciences, Biological psychology

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/96v8k237

المؤلفون: Seminotti, Bianca^Aff2, Latini, Alexandra^Aff3, Amaral, Alexandre U.^Aff4, Leipnitz, Guilhian^Aff2, Wajner, Moacir^{Aff2, Aff5}

المساهمون: Kostrzewa, Richard M., editor^Aff1

المصدر: Handbook of Neurotoxicity. :1383-1401

المؤلفون: Wajner, Moacir^{Aff2, Aff3}

المساهمون: Kostrzewa, Richard M., editor^Aff1

المصدر: Handbook of Neurotoxicity. :981-1005

المؤلفون: Seminotti, Bianca, Brondani, Morgana, Ribeiro, Rafael Teixeira, Leipnitz, Guilhian^{Aff1, Aff2, Aff3}, Wajner, Moacir^{Aff1, Aff3, Aff4, IDs12035022028873_cor5}

المصدر: Molecular Neurobiology. 59(8):4839-4853