Results 101 to 110 of about 5,746 (195)

Glutaric Aciduria Type I Diagnosis Case with Normal Glutaryl Carnitine and Urine Organic Acid Analysis

Journal of Pediatric Research, 2018
Glutaric aciduria Type I (GA-I) is a rare inherited metabolic disease, deficiency of glutaryl-CoA dehydrogenase results in accumulation of the putatively neurotoxic metabolites glutaric and 3-hydroxyglutaric acid (GA, 3-OH-GA) in body tissues ...
Ebru Canda, Havva Yazıcı, Esra Er, Cenk Eraslan, Yasemin Atik Altınok, Hepsen Mine Serin, Sara Habif, Gül Serdaroğlu, Sema Kalkan Uçar, Hüseyin Onay, Ferda Özkınay, Mahmut Çoker   +11 more
doaj   +1 more source

Increased glutamate receptor and transporter expression in the cerebral cortex and striatum of gcdh-/- mice: possible implications for the neuropathology of glutaric acidemia type I.

PLoS ONE, 2014
We determined mRNA expression of the ionotropic glutamate receptors NMDA (NR1, NR2A and NR2B subunits), AMPA (GluR2 subunit) and kainate (GluR6 subunit), as well as of the glutamate transporters GLAST and GLT1 in cerebral cortex and striatum of wild type
Valeska Lizzi Lagranha, Ursula Matte, Talita Giacomet de Carvalho, Bianca Seminotti, Carolina Coffi Pereira, David M Koeller, Michael Woontner, Stephen I Goodman, Diogo Onofre Gomes de Souza, Moacir Wajner   +9 more
doaj   +1 more source

L-2 hydroxyglutaric aciduria in a South African Staffordshire Bull Terrier [PDF]

, 2014
L-2 hydroxyglutaric aciduria is an autosomal recessive error of metabolism that manifests as an encephalopathy. The most common presenting signs are seizures, tremors, ataxia and/ or dementia.
Henriette van der Zwan, Howard Henderson, Marlies Böhm, Sandra Basson   +3 more
core   +1 more source

Isolation of isoprene degrading bacteria from soils, development of isoA gene probes and identification of the active isoprene degrading soil community using DNA-stable isotope probing [PDF]

, 2016
Emissions of biogenic volatile organic compounds (bVOCs), are an important element in the global carbon cycle, accounting for a significant proportion of fixed carbon.
Acuña Alvarez, Altschul, Atkinson, Bertoni, Broadgate, Bäck, Capone, Cardy, Cleveland, Cleveland, Cole, Crombie, Dowd, Dumont, Edgar, Ensign, Ewers, Exton, Fiore, Gelmont, Ginkel, Ginkel, Gray, Greenberg, Guenther, Hylckama Vlieg, Hylckama Vlieg, Hylckama Vlieg, Julsing, Kirschke, Kottegoda, Kuzma, Lane, Leahy, Logan, Loivamäki, Loreto, Marmur, McLeod, Muyzer, Neufeld, Pacifico, Pegoraro, Radajewski, Schaefer, Sharkey, Sharkey, Srivastva, Tamura, Tuovinen, Vickers, Wiedinmyer, Wiedinmyer, Zhou   +53 more
core   +1 more source

Metabolic re-wiring of isogenic breast epithelial cell lines following epithelial to mesenchymal transition. [PDF]

, 2017
To access publisher's full text version of this article, please click on the hyperlink in Additional Links field or click on the hyperlink at the top of the page marked FilesEpithelial to mesenchymal transition (EMT) has implications in tumor progression
Barkovskaya, Anna, Choudhary, Kumari Sonal, Gudjonsson, Thorarinn, Gudmundsson, Steinn, Halldorsson, Skarphedinn, Hilmarsdottir, Bylgja, Knutsen, Erik, Magnusdottir, Manuela, Mælandsmo, Gunhild M, Perander, Maria, Rohatgi, Neha, Rolfsson, Óttar   +11 more
core   +3 more sources

Subdural Hematoma in an Infant with Glutaric Aciduria Type 1: A Case Report on Conservative Management

Acta Médica Portuguesa
Glutaric aciduria type 1 is an inherited metabolic disorder associated with subdural hematomas, possibly due to the widening of external cerebrospinal fluid spaces.
Lúcia Marques, Patrícia Lipari Pinto, Hugo Loureiro Cadilha, Patrícia Janeiro, Ana Gaspar   +4 more
doaj   +1 more source

Microbial diversity and metabolic pathways linked to benzene degradation in petrochemical-polluted groundwater

Environment International
The rapid advance in shotgun metagenome sequencing has enabled us to identify uncultivated functional microorganisms in polluted environments. While aerobic petrochemical-degrading pathways have been extensively studied, the anaerobic mechanisms remain ...
Ruihuan Zhang, Zhencheng Ye, Xue Guo, Yunfeng Yang, Guanghe Li   +4 more
doaj   +1 more source

Método para reconstrução in silico de redes metabólicas de fungos : um estudo de caso para o Paracoccidioides lutzii [PDF]

, 2014
Dissertação (mestrado)—Universidade de Brasília, Instituto de Ciências Exatas, Departamento de Ciência da Computação, 2014.Os fungos produzem uma variedade de metabólitos com aplicações na indústria e na medicina, ao mesmo tempo que podem ser patógenos ...
Silva, Waldeyr Mendes Cordeiro da
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Disorders of Fatty Acid Oxidation in the Era of Tandem Mass Spectrometry in Newborn Screening

, 2008
With recent advances in laboratory technology with tandem mass spectrometry (MS/MS), the number of infants identified with a fatty acid oxidation disorder has increased dramatically.
Banta-Wright, Sandra A., Bennett, Michael J., Shelton, Kathleen C.   +2 more
core   +1 more source

Newborn screening for inborn errors of metabolism and endocrinopathies: an update [PDF]

, 2018
Newborn screening for inborn errors of metabolism and endocrinopathies has expanded during the last two decades, mainly owing to the introduction of new technologies such as tandem mass spectrometry and DNA analysis.
Fingerhut, Ralph, Olgemöller, Bernhard
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