Results 111 to 120 of about 5,871 (233)

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
core  

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

Disease-causing mutations affecting surface residues of mitochondrial glutaryl-CoA dehydrogenase impair stability, heteromeric complex formation and mitochondria architecture [PDF]

, 2016
Jessica Schmiesing, Benjamin Lohmöller, Michaela Schweizer, Henning Tidow, Søren W. Gersting, Ania C. Muntau, Thomas Braulke, Chris Mühlhausen   +7 more
openalex   +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

Decline of Acute Encephalopathic Crises in Children with Glutaryl-CoA Dehydrogenase Deficiency Identified by Newborn Screening in Germany [PDF]

, 2007
Stefan Kölker, Sven F. Garbade, Nikolas Boy, Esther M. Maier, Thomas Meißner, Chris Mühlhausen, Julia B. Hennermann, Thomas Lücke, Johannes Häberle, Jochen Baumkötter, Wolfram Haller, Edith Müller, Johannes Zschocke, Peter Burgard, Georg F. Hoffmann   +14 more
openalex   +1 more source

Purification and characterization of glutaryl-CoA dehydrogenase, electron transfer flavoprotein and ETF-CoQ oxidoreductase from Paracoccus denitrificans

, 1984
Mazhar Husain, Daniël J. Steenkamp
openalex   +1 more source

The link of carbon catabolite repression elements, small RNAs CrcY and CrcZ and polyhydroxyalkanoate metabolism in Pseudomonas putida KT2440

Biotechnology for Biofuels and Bioproducts
Background Polyhydroxyalkanoates (PHAs), biodegradable polymers, can be synthesised and degraded by a number of bacteria. With a range of monomer composition and molecular weight, these polymers can be used for packaging to medical applications. However,
Yixin Che, Dominic Harris-Jukes, Elizabeth Sitko, Moya Brady, William Casey, Michael P. Shaver, Kevin O’Connor, Tanja Narancic   +7 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  

Natural History, Outcome, and Treatment Efficacy in Children and Adults with Glutaryl-CoA Dehydrogenase Deficiency [PDF]

, 2006
Stefan Kölker, Sven F. Garbade, Cheryl R. Greenberg, James V. Leonard, Jean-Marie Saudubray, Antònia Ribes, H. Serap Kalkanoğlu, Allan M. Lund, B. Merinero, Moaçir Wajner, M. Troncoso, Monique Williams, John H. Walter, Jaume Campistol, Milagros MartÍ-Herrero, Melissa Caswill, Alberto Burlina, Florian B. Lagler, Esther M. Maier, Bernd Schwahn, Ayşegül Tokatlı, Ali Dursun, Turgay Coşkun, R. A. Chalmers, David M. Koeller, Johannes Zschocke, Ernst Christensen, Peter Burgard, Georg F. Hoffmann   +28 more
openalex   +1 more source