Results 181 to 190 of about 5,767 (207)

The segregation of glutaryl‐CoA dehydrogenase deficiency and Refsum syndrome in a family

Journal of Inherited Metabolic Disease, 1994
Glutaryl-CoA dehydrogenase (EC 1.3.99.7) deficiency, glutaric aciduria type 1 (GDH deficiency, McKusick 231670), is an autosomal recessively inherited inborn error of the metabolism of the amino acids lysine, hydroxylysine and tryptophan (Goodman and Frerman 1989).
E, Christensen, N J, Brandt, T, Rosenberg, K, Bömers, C, Jakobs   +4 more
openaire   +2 more sources

Development of pathogenic concepts in glutaryl‐CoA dehydrogenase deficiency: The challenge

Journal of Inherited Metabolic Disease, 2004
AbstractSummary: The purpose of this review is to set the stage for discussions that follow about the biochemical and molecular bases of glutaric acidaemia type I, and about the pathogenesis of the characteristic acute striatal necrosis that often occurs during the first years of life.
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Structural and functional effects of clinical missense mutations on glutaryl-CoA dehydrogenase

Free Radical Biology and Medicine, 2018
Glutaric Aciduria Type I (GA-I), is an autosomal recessive neurometabolic disease caused by mutations in the GCDH gene that encodes for Glutaryl-CoA Dehydrogenase, a flavoprotein involved in tryptophan, lysine and hydroxylysine metabolism. Even though the clinical features for the disorder are broadly described, studies regarding the impact of the ...
Joana V. Ribeiro, Tânia G. Lucas, Peter Bross, Cláudio M. Gomes, Bárbara J. Henriques   +4 more
openaire   +1 more source

Glutaric aciduria type 1 (glutaryl-CoA-dehydrogenase deficiency): advances and unanswered questions

European Journal of Pediatrics, 1997
Infants with macrocephaly, young children with acute disease resembling encephalitis, and children with truncal hypotonia, ataxia, or dystonia may be affected by glutaric aciduria type I (GA 1, glutaryl-CoA-dehydrogenase deficiency), a not-so-rare autosomal recessive neurometabolic disease.
A. Superti-Furga, G. F. Hoffmann
openaire   +1 more source

First Trimester Prenatal Exclusion of Glutaryl‐CoA Dehydrogenase Deficiency (Glutaric Aciduria Type 1)

Journal of Inherited Metabolic Disease, 1989
Glutaryl-CoA dehydrogenase (GDH: EC 1.3.99.7) deficiency, glutaric aciduria type 1 (GA1; McKusick 23167) is an autosomal recessively inherited inborn error of lysine and tryptophan catabolism. The first case was described in the USA by Goodman et al. in 1975.
openaire   +2 more sources

Glutaryl-CoA dehydrogenase

1993
Dietmar Schomburg, Margit Salzmann, Dörte Stephan   +2 more
openaire   +1 more source

Glutaryl-CoA Dehydrogenase Deficiency

2009
David J. Timson, Richard J. Reece, James B. Thoden, Hazel M. Holden, Andrea L. Utz, Beverly M. K. Biller, Eugen-Matthias Strehle, Markus Böhm, Thomas A. Luger, Alexander K. C. Leung, Andrew L. Wong, Markus G. Donner, Dieter Häussinger, Nirmal S. Mann, Marcus Schmitt, Alexander K. C. Leung, William Lane M. Robson, Andrew L. Wong, Manisha Balwani, Ainu Prakash-Cheng*, Robert J. Desnick, Holger Lerche, Ingrid E. Scheffer, Samuel F. Berkovic, Brigitte M. Lobnig, Peter L. M. Jansen, Siegfried Waldegger, Florian Lang, Hugo ten Cate, Hagen Thieme, Michael Weller, Bärbel Schütte, Ronnie Fass, Hideki Kato, Masaomi Nangaku, Hideki Kato, Masaomi Nangaku, Anthony Chang, Pradeep V. Kadambi, Jessy J. Alexander, Pierre Ronco, Hanna Debiec, Christian Hugo, Brigitte M. Lobnig, Brigitte M. Lobnig, John-John B. Schnog, Victor E. A. Gerdes, Jean Francis, David S. Geller, Knut Brockmann, Dong Wang, Darryl C. Vivo, Stefan Kölker, Stefan Kölker, Elardus Erasmus, Lodewyk J. Mienie, John Vissing, Arnold Reuser, Catherine E. Correia, David A. Weinstein, Joseph I. Wolfsdorf, Yoon S. Shin, Reinout P. Hesselink, Maarten R. Drost, Anton J. M. Wagenmakers, Ger J. Vusse, Stefan Kiechl, Jonas Denecke, Ute Schepers, Thomas Kolter, Konrad Sandhoff, Dianna C. Martin, Barbara L. Triggs-Raine, Seda Sancak, Ralf Paschke, Dorin-Bogdan Borza, Sonja Ständer, Heiko Traupe, Michael A. Becker, Hanneke M. Straaten, Leo F. Verdonck, Hugo Ten Cate, Martin Mempel, Dietrich Abeck, Ismat Ghanem, Samer El Hage, Johannes G. Bode, Thomas A. Fleisher, Steven M. Holland, Bennett Myers, David Herrmann, Zaki Kraiem, Yaron Tomer, Terry F. Davies, James G. White, Sylvia Stöckler-Ipsiroglu, Guido Stoll, Klaus V. Toyka, Valéria Lamounier-Zepter, Klaus Ruether   +99 more
openaire   +1 more source

Glutaric aciduria: Inherited deficiency of glutaryl-CoA dehydrogenase activity

Biochemical Medicine, 1975
S I, Goodman, J G, Kohlhoff
openaire   +2 more sources

Synthesis of Substrate Analogs for Glutaryl-CoA Dehydrogenase: 3-Thia-Glutaryl-CoA and 4-Nitrobutyryl-CoA

Microchemical Journal, 1997
Patricia L. Kultgen, Leonard Edwards, Jr., Colleen M. Byron   +2 more
openaire   +1 more source

Treatment of glutaryl-CoA dehydrogenase deficiency (glutaric aciduria)

The Journal of Pediatrics, 1979
Niels Jacob Brandt, Niels Gregersen, Ernst Christensen, Ida Howard Grøn, Karsten Rasmussen   +4 more
openaire   +1 more source