Deeper Than the Metabolite: A Novel Genetic Mutation in an Indian Child With Glutaric Aciduria Type 1. [PDF]
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Neurocognitive characterization and academic impact in pediatric patients belonging to the national registry of GA-1. [PDF]
Orphanet J Rare DisBerta ZC +9 more
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Peripheral Neuropathy Expands the Neurological Phenotype in Glutaric Aciduria Type 1. [PDF]
J Inherit Metab DisPreisner F +8 more
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Lysine <i>α</i>-ketoglutarate reductase as a therapeutic target for saccharopine pathway related diseases. [PDF]
Front Mol NeurosciValderrama GV, Moreira GA, Arruda P.
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Case report: Lysine improvement in siblings with glutaric acidemia type 1 following reduced medical food intake: Implications for amino acid absorption and reabsorption. [PDF]
Mol Genet Metab RepNoh G, Upadia J.
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What, This "Base" Is Not a Base? Common Misconceptions about Aqueous Ionization That May Hinder Drug Discovery and Development. [PDF]
J Med ChemFraczkiewicz R.
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First report of neonatal-onset glutaric aciduria type II in the Iranian population caused by a novel deleterious ETFA variant. [PDF]
Orphanet J Rare DisParvini F, Ajam-Hosseini M, Shadpour M.
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Climatic Reliability of Electronics: Early Prediction and Control of Contamination and humidity effects [PDF]
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Multiomics analysis reveals the exacerbating effect of constipation on autism-related symptoms in children with autism spectrum disorder. [PDF]
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