Results 111 to 120 of about 5,746 (195)

Glutaric Aciduria (Type I) in Young Infants with Seizures: A case series highlighting Diagnostic Dilemma with Radiological Keys

Journal of Clinical and Diagnostic Research
Glutaric Aciduria Type I (GA-1) is an autosomal recessive neurometabolic disorder characterised by the accumulation of toxic metabolites due to Glutaryl-CoA Dehydrogenase (GCDH) deficiency, leading to striatal damage and neurodegeneration.
Parth Nikhil Doshi, Kunal Solanki, Ashutosh Patel, Prerna Jain   +3 more
doaj   +1 more source

Enhanced differentiation between 3‐hydroxyglutaric and 2‐hydroxyglutaric acids facilitates diagnostic testing for glutaric aciduria type 1

JIMD Reports
Glutaric aciduria type 1 (GA1) is an inherited neurometabolic disorder, in which deficiency of glutaryl‐CoA dehydrogenase leads to accumulation of glutaric acid (GA) and 3‐hydroxyglutaric acid (3‐HG).
Denis Cyr, Michel Boutin, Bruno Maranda, Paula J. Waters   +3 more
doaj   +1 more source

Analysis of the effects of β-mannanase on immune function and intestinal flora in broilers fed the low energy diet based on 16S rRNA sequencing and metagenomic sequencing

Poultry Science
: As an enzyme, β-mannanase (BM) can be widely used as feed additive to improve the growth performance of animals. This experiment aimed to determine the effect of the addition of BM to low-energy diet on the immune function and intestinal microflora of ...
Xiaodan Zhang, Yanhong Chen, Zengpeng Lv, Liangjuan Zhou, Yuming Guo   +4 more
doaj   +1 more source

Toxicity of statins on rat skeletal muscle mitochondria [PDF]

, 2018
.: We investigated mitochondrial toxicity of four lipophilic stains (cerivastatin, fluvastatin, atorvastatin, simvastatin) and one hydrophilic statin (pravastatin).
Brecht, K., Kaufmann, P., Krähenbühl, S., Török, M., Waldhauser, K., Zahno, A.   +5 more
core  

Glutaryl-CoA dehydrogenase deficiency [PDF]

, 2020
openaire   +1 more source

Intraventricular Baclofen for Treatment of Severe Dystonia Associated with Glutaryl-CoA Dehydrogenase Deficiency (GA1): Report of Two Cases. [PDF]

Mov Disord Clin Pract, 2016
Ghatan S, Kokoszka MA, Ranney AM, Strauss KA.   +3 more
europepmc   +1 more source

Genetic Screening of Selected Disease-Causing Mutations in Glutaryl-CoA Dehydrogenase Gene among Indian Patients with Glutaric Aciduria Type I. [PDF]

J Pediatr Genet, 2017
Tp KV, Muntaj S, Devaraju KS, Kamate M, Vedamurthy AB.   +4 more
europepmc   +1 more source

Glutaryl-CoA dehydrogenase: a key biomarker linking lysine degradation to hepatocellular carcinoma metastasis and prognosis via NF-KB signaling pathway. [PDF]

J Gastrointest Oncol
Hu Q, Huang S, Li Z, Yu Y, Yu S, Wu D, Tai S.   +6 more
europepmc   +1 more source

Pyropheophytin a accompanies pheophytin a in darkened light grown cells of Euglena [PDF]

, 1981
Rüdiger, W., Scheer, Hugo, Schiff, J. A., Schoch, S., Siegelmann, H. W.   +4 more
core  

Prevention of Disease in Glutaryl-CoA Dehydrogenase Deficiency (GDD) 859 [PDF]

Pediatric Research, 1996
G F Hoffmann, A Burlina, M Duran, J BC De Klerk, J V Leonard, A Muntau, E R Naughten, F K Plecko-Starting, A Superti-Furga, E Christensen   +9 more
openaire   +1 more source