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Adult-onset glutaric aciduria type I: rare presentation of a treatable disorder
Neurogenetics, 2020P. Gelener +9 more
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[Neuroradiologic findings of glutaric aciduria type I].
Revista de medicina de la Universidad de Navarra, 2008Glutaric aciduria type I is a rare disorder of organic acid metabolism caused by deficiency of glutaryl-CoA dehydrogenase, a mitochondrial enzyme. Improper degeneration of amino acids: tryptophan, lysine, and hydroxylysine, results in increased levels of glutaric acid, which typically becomes clinically manifest as an acute dystonic crisis in young ...
E, de Luis +4 more
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[Analysis of GCDH gene variant in a child with Glutaric aciduria type I].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, 2022H. Yin, Qiong-Yao Xue, Suyue Zhu
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An overview of real‐world data sources for oncology and considerations for research
Ca-A Cancer Journal for Clinicians, 2022Lynne Penberthy +2 more
exaly
Health insurance status and cancer stage at diagnosis and survival in the United States
Ca-A Cancer Journal for Clinicians, 2022Jingxuan Zhao +2 more
exaly
Glutaric aciduria type I associated with learning disability.
Indian journal of pediatrics, 2005The authors report a 7-year-8-months-old boy with glutaric aciduria type I who had associated dyslexia, dysgraphia and dyscalculia. The diagnosis of glutaric aciduria type I was confirmed on the basis of characteristic neuroimaging and biochemical findings.
Neela, Patil +3 more
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An overview of precision oncology basket and umbrella trials for clinicians
Ca-A Cancer Journal for Clinicians, 2020Kristian Thorlund, Edward J Mills
exaly